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Developmental anomalies and hereditary diseases of vessels

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Book cover The Pathology of Vessels

Abstract

Congenital vascular anomalies can be divided into three groups: those developing during intra-uterine life, those associated with karyotype aberrations, and those arising from the effects of single genes or complex polygenic mutations. There are no good data on the incidence of these lesions; a recent Finnish study on 4346 new-borns showed a 3.8% rate of vascular lesions excluding salmon patches on the head and neck, in general agreement with other studies [1]. Seventy to 80% of lesions are said to regress spontaneously by the age of seven years. In most instances of this type of lesion both blood and lymphatic vessels may be affected.

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Bibliography

  1. Karvonen SL, Vaajalahti P, Marenk M, Janas M, Kuokkanen K (1992) Birthmarks in 4336 Finish newborns. Acta Derm Venereol 72: 55–7

    PubMed  CAS  Google Scholar 

  2. de Felipe I, Quintanflla E (1997) Neurocutaneous syndromes with vascular alterations. Rev Neurol 25: S250 - S258

    PubMed  Google Scholar 

  3. Handfield-Jones SE, Kennedy CT, Bradfied JB (1988) Angiosarcoma arising in an angiomatous naevus following irradiation in childhood. Br J Dermatol 118: 109–12

    PubMed  CAS  Google Scholar 

  4. Landthaler M, Hohenleutner U, el-Raheem TA (1995) Laser therapy of childhood haemangiomas. Br J Dermatol 133: 275–81

    PubMed  CAS  Google Scholar 

  5. Distefano G, Rodono A, Betta P, Di Bella D, Gelardi S, Di Fede GF, Romeo MG (1996) Congenital pulmonary lymphangiectasia with chylothorax. Different evolution of 2 cases with severe neonatal respiratory distress. Pediatr Med Chir 18: 519–23

    PubMed  CAS  Google Scholar 

  6. Blagowidow N, Page DC, Huff D, Mennuti MT (1989) Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the Y chromosome. Am J Med Genet 34: 159–62

    PubMed  CAS  Google Scholar 

  7. Fryns JP, Moerman P (1998) Trisomy 21 in a second trimester male hydropic fetus with “Noonan-syndromephenotype”: nuchal and thoracic lymphangiomatosis, oedema of the dorsum of hands and feet, and bicuspid pulmonary valve. Genet Couns 9: 59–60

    PubMed  CAS  Google Scholar 

  8. Green HD, Mollica AJ, Karuza AS (1995) Gorham’s disease: a literature review and case reports. J Foot Ankle Surg 34: 435–41

    PubMed  CAS  Google Scholar 

  9. Askin FB (1991) Respiratory tract disorders In Wigglesworth JM, Singer DB (eds.) Textbook of fetal and perinatal pathology. Blackwell Scientific Publications, Boston, p. 659

    Google Scholar 

  10. Gilewski MK, Statler CC, Kohut G, Toriello HV (1996) Congenital pulmonary lymphangiectasia and other anomalies in a child: provisionally unique syndrome ? Am J Med Genet 66: 438–40

    PubMed  CAS  Google Scholar 

  11. Kerhoas Nicolas CK, Le Bidaut M, Dosquet C, Enjolras O, Stalder JF (1997) Kasabach-Merritt syndrome of the leg associated with osteolysis or Gorham sign. Ann Dermatol Venereol 124: 852–4

    Google Scholar 

  12. Njolstad PR, Reigstad H, Westby J, Espeland A (1998) Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia. Eur J Pediatr 157: 498501

    Google Scholar 

  13. Misery L, Lachaux A, Chambon M, Faure M, Claudy A (1996) Waldman’s disease. Primary intestinal lymphangiectasis. Ann Dermatol Venereol 123: 567–8

    Google Scholar 

  14. Dellamonica P, Lapeyre L, Martin J (1975) Chylometrorrhea. Clinical manifestation of primary chyle reflux. Nouv Presse Med 4: 3129–31

    Google Scholar 

  15. Klippel M, Trénaunay P (1900) Du naevus variqueux ostéo-hypertrophique. Arch Gen Med (Paris) 185: 64172

    Google Scholar 

  16. Weber FP (1907) Angioma-formation in connection with hypertrophy of limbs and hemi-hypertrophy. Br J Dermatol 19: 231–5

    Google Scholar 

  17. Jacob AG, Driscoll DJ, Shaughnessy WJ, Stanton AW, Clay RP, Gloviczki P (1998) Klippel-Trenaunay syndrome: spectrum and management. Mayo Clin Proc 73: 28–36

    PubMed  CAS  Google Scholar 

  18. Christenson L, Yankowitz J, Robinson R (1997) Prenatal diagnosis of Klippel-Trenaunay syndrome as a cause for in utero heart failure and severe postnatal sequelae. Prenat Diagn 17: 1176–80

    PubMed  CAS  Google Scholar 

  19. Ceballos-Quintal JM, Pinto-Escalante D, Castillo-Zapata I (1996) A new case of Klippel-Trenaunay-Weber (KTW) syndrome: evidence of autosomal dominant inheritance. Am J Med Genet 63: 426–7

    PubMed  CAS  Google Scholar 

  20. Lorda-Sanchez I, Prieto L, Rodriguez-Pinilla E, Martinez-Frias ML (1998) Increased parental age and number of pregnancies in Klippel-Trenaunay-Weber syndrome. Ann Hum Genet 62: 235–9

    PubMed  CAS  Google Scholar 

  21. Craven N, Wright AL (1995) Familial Klippel-Trenaunay syndrome: a case report. Clin Exp Dermatol 20: 76–9

    PubMed  CAS  Google Scholar 

  22. Whelan AJ, Watson MS, Porter FD, Steiner RD (1995) Klippel-Trenaunay-Weber syndrome associated with a 5: 11 balance translocation. Am J Med Genet 59: 492–4

    PubMed  CAS  Google Scholar 

  23. Aronoff DM, Roshon M (1998) Severe hemorrhage cornplicating the Klippel-Trenaunay-Weber syndrome. South Med J 91: 1073–5

    PubMed  CAS  Google Scholar 

  24. Reize P, Schonthaler M, Sell S (1997) Proteus syndrome: a case report. Z Orthop Ihre Grenzgeb 135: 174–8

    PubMed  CAS  Google Scholar 

  25. Furukawa T, Igata A, Toyokura Y (1970) Ikeda S: SturgeWeber and Klippel-Trenaunay syndrome with nevus of Ota and Ito. Arch Dermatol 102: 640–5

    Google Scholar 

  26. Sujansky E, Conradi S (1995) Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 57: 35–45

    PubMed  CAS  Google Scholar 

  27. Sujansky E, Conradi S (1995) Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 10: 49–58

    PubMed  CAS  Google Scholar 

  28. lessen RT, Thompson S, Smith EB (1977) Cobb syndrome. Arch Dermatol 113: 1587–90

    Google Scholar 

  29. Kraus GE, Bucholz RD, Weber TR (1990) Spinal cord arteriovenous malformation with an associated lymphatic anomaly. Case report. J Neurosurg 73: 768–73

    Google Scholar 

  30. Stein J, Myers SJ (1992) Spinal cord arteriovenous malformation in a person with congenital lymphatic abnormalities. Am J Phys Med Rehabil 71: 349–51

    PubMed  CAS  Google Scholar 

  31. Shim JH, Lee DW, Cho BK (1996) A case of Cobb syndrome associated with lymphangioma circumscriptum. Dermatology 193: 45–7

    PubMed  CAS  Google Scholar 

  32. Lewis RJ, Ketcham A (1973) Maffucci’s syndrome: functional and neoplastic significance. J Bone Joint Surg 55A: 1465–79

    PubMed  CAS  Google Scholar 

  33. Davidson TI, Kissin MW, Bradish CF, Westbury G (1985) Angiosarcoma arising in a patient with Maffucci syndrome. Eur J Surg Oncol 11: 381–4

    PubMed  CAS  Google Scholar 

  34. Mazabraud A (1994) Anatomie pathologique osseuse tumorale. Springer-Verlag, Paris Berlin Heidelberg NewYork Londres Tokyo HongKong Barcelone Budapest

    Google Scholar 

  35. Fanburg JC, Meis-Kindblom JM, Rosenberg AE (1995) Multiple endochondromas associated with spindle-cell hemangioendotheliomas. An overlooked variant of Maffuci’s syndrome. Am J Surg Pathol 19: 1029–38

    Google Scholar 

  36. Tadaki T, Aiba S, Masu S, Tagami H (1988) Acquired progressive lymphangioma as a flat erythematous patch on the abdominal wall of a child. Arch Dermatol 124: 699701

    Google Scholar 

  37. Wilson Jones E, Winkelmann RK, Zachary CB, Reda AM (1990) Benign lymphangio-endothelioma. J Am Acad Dermatol 23: 229–35

    PubMed  CAS  Google Scholar 

  38. Needleman RL (1996) Gorham’s disease: a literature review and case reports (letter). J Foot Ankle Surg 35: 369

    PubMed  CAS  Google Scholar 

  39. Panich V (1994) Splenic cystic lymphangiomatosis: an unusual cause of massive splenomegaly: report of a case. J Med Assoc Thai 77: 165–8

    PubMed  CAS  Google Scholar 

  40. de Souza LM, Bentlin MR, de Abreu ES, Bacchi CE (1996) Systemic congenital lymphangiomatosis. Rev Paul Med 114: 1278–81

    Google Scholar 

  41. Dutheil P, Leraillez J, Guillemette J, Wallach D (1998) Generalized lymphangiomatosis with chylothorax and skin lymphangiomas in a neonate. Pediatr Dermatol 15: 296–8.

    PubMed  CAS  Google Scholar 

  42. Van den Houten BR, Kate T, Gerding JC (1985) The Hajdu-Cheney syndrome. A review of the literature and report of three cases. Int J Oral Surg 14: 113–25

    Google Scholar 

  43. Takeda Y, Kuroda M, Suzuki A, Fujioka F, Takayama K (1987) Massive osteolysis of the mandible. Acta Pathol Jpn 37: 677–84

    PubMed  CAS  Google Scholar 

  44. Damron TA, Brodke DS, Heiner JP, Swan JS, De Souky S (1993) Gorham’s disease (Gorham-Stout syndrome) of scapula. Case report. Skeletal Radiol 22: 464–7

    Google Scholar 

  45. Swensen SJ, Hartman TE, Mayo JR, Colby TV, Tazelaar HD, Muller NL (1995) Diffuse pulmonary lymphangiomatosis: CT findings. J Comput Assist Tomogr 19: 34852

    Google Scholar 

  46. Gutierrez RM, Spjut HJ (1972) Skelettal angiomatosis: report of three cases and review of the literature. Clin Orthop Rel Res 85: 82–97

    CAS  Google Scholar 

  47. Najman E, Fabeici-Sabadi V, Temmer B (1967) Lymphangioma in the inguinal region with cystic lymphangiomatosis of bone. J Pediatr 71: 561–6

    PubMed  CAS  Google Scholar 

  48. Kandil A, Rostom AY, Mourad WA, Khafaga Y, Gershuny AR, el-Hosseiny G (1997) Successful control of extensive thoracic lymphangiomatosis by irradiation. Clin Oncol (R Coll Radiol) 9: 407–11

    CAS  Google Scholar 

  49. Patton DF, Kaye R, Dickman P, Blatt J (1998) Partial splenic embolization for treatment of disseminated intravascular coagulation in lymphangiomatosis. J Pediatr 132: 1057–60

    PubMed  CAS  Google Scholar 

  50. Ramani P, Shah A (1993) Lymphangiomatosis. Histologic and immunohistochemical analysis of four cases. Am J Surg Pathol 17: 329–35

    Google Scholar 

  51. Tazelaar HD, Kerr D, Yousem SA, Saldana MJ, Langston C, Colby TV (1993) Diffuse pulmonary lymphangiomatosis. Hum Pathol 24: 1313–22

    PubMed  CAS  Google Scholar 

  52. Carlson KC, Parnassus WN, Klatt EC (1987) Thoracic lymphangiomatosis. Arch Pathol Lab Med 111: 475–7

    PubMed  CAS  Google Scholar 

  53. Bloch P, Meshaka G, Takeara E, Hamdan M (1989) Diffuse retroperitoneal lymphangioleiomatosis. Presse Med 18: 2011–3

    PubMed  CAS  Google Scholar 

  54. Younathan CM, Kaude W (1992) Renal peripelvic lymphatic cysts (lymphangiomas) associated with generalized lymphangiomatosis. Urol Radiol 14: 161–4

    PubMed  CAS  Google Scholar 

  55. Brown RR, Pathria MN, Ruggieri PM, Jacobson JA, Craig JG, Resnick D (1997) Extensive intraosseous gas associated with lymphangiomatosis of bone: report of three cases. Radiology 205: 260–2

    PubMed  CAS  Google Scholar 

  56. Ohori NP, Yousem SA, Sonmez-Alpan E, Colby TV (1991) Estrogen and progesterone receptors in lymphangioleiomyomatosis, epithelioid hemangioendothelioma, and sclerosing hemangioma of the lung. Am J Clin Pathol 96: 529–35

    PubMed  CAS  Google Scholar 

  57. Sathyavagiswaran L, Sherwin RP (1989) Acute and chronic pericholangiolitis in association with multifocal hepatic lymphangiomatosis. Hum Pathol 20: 601–3

    PubMed  CAS  Google Scholar 

  58. Houissa H, Jouini M, Kacem M, Safta ZB, Belaid S (1994) Cystic lymphangioma of the spleen. An exceptional site. 76. Ann Gastroenterol Hepatol (Paris) 30: 215–7

    CAS  Google Scholar 

  59. Takami A, Nakao S, Sugimori N, Ishida F, Yamazaki M, Nakatsumi Y, Saito M, Otake S, Nakamura S, Matsuda T 77. (1995) Management of disseminated intra-abdominal lymphangiomatosis with protein-losing enteropathy and intestinal bleeding. South Med J 88: 1156–8.

    PubMed  CAS  Google Scholar 

  60. Iwabuchi A, Otaka M, Okuyama A, Jin M, Otani S, Itoh S, Sasahara H, Odashima M, Kotanagi H, Satoh M, Masuda H, Masamune O (1997) Disseminated intra-abdominal cystic lymphangiomatosis with severe intestinal bleeding. A case report. J Clin Gastroenterol 25: 383–6

    Google Scholar 

  61. Barrière H, Stalder JF, Chailleux E, De Kersaint-Gily A, Bolz JL (1981) Sclérose tubéreuse de Bourneville et lymphangiomyomatose. Sem Hôp Paris 57: 321–6

    PubMed  Google Scholar 

  62. Capron F, Ameille J, Leclerc P, Mornet P, Barbagellata M, Reynès M, Rochemaure J (1983) Pulmonary lymphangioleiomyomatosis and Bourneville’s tuberous sclerosis with pulmonary involvement: the same disease ? Cancer 52: 851–5

    PubMed  CAS  Google Scholar 

  63. About I, Capdeville J, Voigt JJ, Bernard P, Michetti C, Faizon R (1994) Renal angiomyolipoma and pulmonary lymphangiomyomatosis: a non-fortuitous association. Rev Med Interne 15: 279–81

    PubMed  CAS  Google Scholar 

  64. Bradley SL, Dines DE, Soule EH, Muhm JR (1980) Pulmonary lymphangiomatosis. Lung 158: 69–80

    PubMed  CAS  Google Scholar 

  65. Malan E, Puglionisi A (1964) Congenital angiodysplasias of the extremities (note I: generalities and classification; venous dysplasia). J Cardiovasc Surg (Torino) 5: 87130

    Google Scholar 

  66. Rao VK, Weiss SW (1992) Angiomatosis of soft tissue: an analysis of the histologic features and clinical outcome in 51 cases. Am J Surg Pathol 16: 764–71

    PubMed  CAS  Google Scholar 

  67. Allen PW (1994) Three new vascular tumors- Tufted angioma, Kaposiform infantile hemangioendothelioma and Proliferative cutaneous angiomatosis. Int J Pathol 2: 63–72

    Google Scholar 

  68. Szlachetka DM (1998) Kasabach-Merritt syndrome: a case review. Neonatal Netw 17: 7–15

    PubMed  CAS  Google Scholar 

  69. Brooks J, Elenitsas R, Hicks D, Elder D (1993) Proliferative cutaneous angiomatosis: A cellular tumor mimicking angiosarcoma and Kaposi’s sarcoma (abstract). Mod Pathol 6: 5A

    Google Scholar 

  70. Vin-Christian K, McCalmont TH, Frieden IJ (1997) Kaposiform hemangioendothelioma. An aggressive, locally invasive vascular tumor that can mimic hemangioma of infancy. Arch Dermatol 133: 1573–8

    Google Scholar 

  71. d’Udekem Y, Rubay JE, Sluysmans T (1997) A case of neonatal ductus arteriosus aneurysm. Cardiovasc Surg 5: 338–9

    PubMed  Google Scholar 

  72. Gittenberger-de Groot AC (1977) Persistent ductus arteriosus: most probably a primary congenital malformation. Br Heart J 39: 610–8

    Google Scholar 

  73. Gittenberger-de Groot AC, Moulaert AJ, Harinck E, Becker AE (1978) Histopathology of the ductus arteriosus after prostaglandin El administration in ductus dependent cardiac anomalies. Br Heart J 40: 215–20

    Google Scholar 

  74. Gittenberger-de Groot AC, Moulaert AJ, Hitchcock JF (1980) Histology of the persistent ductus arteriosus in cases of congenital rubella. Circulation 62: 183–6

    Google Scholar 

  75. Valenzuela Garcia LF, Vazquez Garcia R, Pastor Morales L, Calvo Jambrina R, Rodriguez Hernandez MJ, Font Cabrera I, Cubero Garcia J, Pastor Torres L, Cruz Fernandez JM, Infantes Alcon C (1998) Aortic coarctation: different anatomo-clinical forms depending on the age of presentation. Rev Esp Cardiol 51: 572–81

    Google Scholar 

  76. Elzenga NJ, Gittenberger-de Groot AC (1983) Localised coarctation of the aorta. An age dependent spectrum. Br Heart J 49: 317–23

    Google Scholar 

  77. Machii M, Becker AE (1995) Nature of coarctation in hypoplastic left heart syndrome. Ann Thorac Surg 59: 14914

    Google Scholar 

  78. Sarigul A, Yurdakul Y, Isbir S, Mercan S, Celiker A (1997) Bicuspid aortic valve and coarctation of aorta. Turk J Pediatr 39: 429–32

    PubMed  CAS  Google Scholar 

  79. Yamaguchi A, Adachi H, Kamio H, Murata S, Okada M, Adachi K, Ino T, Ichikawa T, Nagai J, Yamada S (1998) A combination of preductal aortic coarctation and type B dissection: report of a case. Surg Today 28: 435–7

    PubMed  CAS  Google Scholar 

  80. Goh WH, Lo R (1993) A new 3C syndrome: cerebellar hypoplasia, cavernous haemangioma and coarctation of the aorta. Dev Med Child Neurol 35: 637–41

    PubMed  CAS  Google Scholar 

  81. Heath D, Smith P, Hurst G (1986) The carotid bodies in coarctation of the aorta. Br J Dis Chest 80: 122–30

    PubMed  CAS  Google Scholar 

  82. Deluca SA (1990) Coarctation of the aorta. Am Fam Physician 42: 1285–8

    PubMed  CAS  Google Scholar 

  83. Aota M, Nomoto S, Yamaki S, Ban T (1997) Pulmonary hypertension caused by medial hypertrophy associated with aortic stenosis and preductal coarctation. Ann Thorac Surg 64: 244–7

    PubMed  CAS  Google Scholar 

  84. Hasegawa T, Yoshioka Y, Sasaki T, Iwasaki Y, Mild Y, Sumimura J, Koyama H, Dezawa T (1997) Necrotizing enterocolitis in a term infant with coarctation of the aorta complex. Pediatr Surg Int 12: 57–8

    PubMed  CAS  Google Scholar 

  85. Bonhoeffer P, Bonnet D, Sidi D, Kachaner J (1997) Thrombus in coarctation of the aorta masquerading as an interrupted aortic arch. Heart 77: 183–4

    PubMed  CAS  Google Scholar 

  86. Mitchell IM, Pollock JC (1990) Coarctation of the aorta and post-stenotic aneurysm formation. Br Heart J 64: 332–3

    PubMed  CAS  Google Scholar 

  87. Kido M, Ueda T, Mitsumaru A, Nakamichi T, Yasudo M, Kawada S (1997) A case report of postcoarctation mycotic aneurysm after surgical treatment for cerebral arterial aneurysms. Nippon Kyobu Geka Gakkai Zasshi 45: 100610

    Google Scholar 

  88. Kurien A, John PR, Milford DV (1997) Hypertension secondary to progressive vascular neurofibromatosis. Arch Dis Child 76: 454–55

    PubMed  CAS  Google Scholar 

  89. Elzenga NJ, Gittenberger-de Groot AC (1985) Coarctation and related aortic arch anomalies in hypo-plastic left heart syndrome. Int J Cardiol 8: 379–93

    PubMed  CAS  Google Scholar 

  90. Elzenga NJ, Gittenberger-de Groot AC, Oppenheimer-Dekker A (1986) Coarctation and other obstructive aortic arch anomalies: their relationship to the ductus arteriosus. Int J Cardiol 13: 289–308

    PubMed  CAS  Google Scholar 

  91. Bergamini TM, Bernard JD, Mavroudis C, Backer CL, Muster AJ, Richardson JD (1995) Coarctation of the abdominal aorta. Ann Vasc Surg 9: 352–6

    PubMed  CAS  Google Scholar 

  92. Mickley V, Lang G, Fleiter T, Sunder-Plassmann L (1997) Atypical aortic coarctations in type I neurofibromatosis. Zentralbl Chir 122: 735–42

    PubMed  CAS  Google Scholar 

  93. Edwards JE, Titus Jl (1995) Congenital anomalies of blood vessels and their complications In Stehbens WE, Lie JT (Eds.) Vascular Pathology, Chapman & Hall, London pp 21–61

    Google Scholar 

  94. Korenberg JR, Kawashima H, Pulst SM, Allen L, Magenis E, Epstein CJ (1990) Down syndrome: toward a molecular definition of the phenotype. Am J Med Genet Suppl 7: 91–7

    PubMed  CAS  Google Scholar 

  95. Cooley WC, Graham JM Jr (1991) Down syndrome-an update and review for the primary pediatrician. Clin Pediatr (Phila) 30: 233–53

    CAS  Google Scholar 

  96. Geggel RL, O’Brien JE, Feingold M (1993) Development of valve dysfunction in adolescents and young adults with Down syndrome and no known congenital heart disease. J Pediatr 122: 821–3

    PubMed  CAS  Google Scholar 

  97. Gembruch U, Baschat AA, Knopfle G, Hansmann M (1997) Results of chromosomal analysis in fetuses with cardiac anomalies as diagnosed by first-and early second-trimester echocardiography. Ultrasound Obstet Gynecol 10: 391–6

    PubMed  CAS  Google Scholar 

  98. Chervenak FA, Isaacson G, Blackemore KJ, Breg WR, Hobbins JC, Berkowitz RL, Tottora M, Mayden K, Mahonay M (1983) Fetal cystic hygroma. N Engl J Med 309: 822–5

    PubMed  CAS  Google Scholar 

  99. Descamps P, Jourdain O, Paillet C, Toutain A, Guichet A, Pourcelot D, Gold F, Castiel M, Body G (1997) Etiology, prognosis and management of nuchal cystic hygroma: 25 new cases and literature review. Eur J Obstet Gynecol Reprod Biol 71: 3–10

    PubMed  CAS  Google Scholar 

  100. Couceiro Gianzo JA, Perez Cobeta R, Fuster Siebert M, Barreiro Conde J, Pombo Arias M (1996) The Turner syndrome and cardiovascular changes. An Esp Pediatr 44: 242–4

    Google Scholar 

  101. Ruibal Francisco JL, Sanchez Buron P, Pinero Martinez E, Bueno Lozano G, Reverte Blanc F (1997) Turner’s syndrome. Relationship between the karyotypes and malformations and associated diseases in 23 patients. An Esp Pediatr 47: 167–71

    Google Scholar 

  102. Nora JJ, Clarke Fraser F (1974) Medical genetics: Principles and practice. Lea & Febiger, Philadelphia, 399 p

    Google Scholar 

  103. Gomez-Valencia L, Najera-Martinez P, Morales-Hernandez A, Martinez-Diaz De Leon A (1989) Penta-X syndrome. Report of a case with 47, XXX/48, XXXX/49, XXXXX mosaicism. Bol Med Hosp Infant Mex 46: 41721

    Google Scholar 

  104. Kassai R, Hamada 1, Furuta H, Cho K, Abe K, Deng HX, Niikawa N (1991) Penta X syndrome: a case report with review of the literature. Am J Med Genet 40: 51–6

    PubMed  CAS  Google Scholar 

  105. Karsh RB (1975) Congenital heart disease in 49, XXXXY syndrome. Pediatrics 56: 462–4

    PubMed  CAS  Google Scholar 

  106. Muis N, Cats BP, Ippel PF, Beemer FA (1982) A newborn infant with the XXXXY-syndrome. Tijdschr Kindergeneeskd 50: 112–6

    PubMed  CAS  Google Scholar 

  107. Sutherland GR, Mulley JL, Richards RI (1993) Fragile X syndrome. The most common cause of famililal intellectual handicap. Med J Aust 158: 482–5

    Google Scholar 

  108. Hagerman RJ, Synhorst DP (1984) Mitral valve prolapse and aortic dilatation in the fragile X syndrome. Am J Med Genet 17: 123–31

    PubMed  CAS  Google Scholar 

  109. Loehr JP, Synhorst DP, Wolfe RR, Hagerman RJ (1986) Aortic root dilations and mitral valve prolapse in the fragile X syndrome. Am J Med Genet 23: 189–94

    PubMed  CAS  Google Scholar 

  110. Sreeram N, Wren C, Bhate M, Robertson P, Hunter S (1989) Cardiac abnormalities in the fragile X syndrome. Br Heart J 61: 289–91

    PubMed  CAS  Google Scholar 

  111. Nadazdin A, Shahi M, Foale RA (1991) Impaired left ventricular filling during ST-segment depression provoked by dipyridamole infusion in patients with syndrome X. Clin Cardiol 14: 821–6

    PubMed  CAS  Google Scholar 

  112. Crabbe LS, Bensky AS, Hornstein L, Schwartz DC (1993) Cardiovascular abnormalities in children with fragile X syndrome. Pediatrics 91: 714–5

    PubMed  CAS  Google Scholar 

  113. Waldstein G, Hagerman R (1988) Aortic hypoplasia and cardiac valvular abnormalities in a boy with fragile X syndrome. Am J Med Genet 30: 83–98

    PubMed  CAS  Google Scholar 

  114. Eng CM, Ashley GA, Burgert TS, Enriquez AL, D’Souza M, Desnick RJ (1997) Fabry disease: thirty five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 3: 174–82

    PubMed  CAS  Google Scholar 

  115. Le Bodic MF, Le Bodic L, Buzelin F, Bureau B, MussiniMontpellier J (1978) Vascular lesions of Fabry’s disease. Optical, histochemical and ultrastructural studies. Ann Anat Pathol (Paris) 23: 23–39

    Google Scholar 

  116. Smith P, Heath D, Rodgers B, Helliwell T (1991) Pulmonary vasculature in Fabry’s disease. Histopathology 19: 567–9

    PubMed  CAS  Google Scholar 

  117. Kanda A, Nakao S, Tsuyama S, Murata F, Kanzaki T (2000) Fabry disease: ultrastructural lectin histochemical analyses of lysosomal deposits. Virchows Arch 436: 36–42

    PubMed  CAS  Google Scholar 

  118. Li P, Thompson JN, Hug G, Huffman P, Chuck G (1996) Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation. Am J Med Genet 64: 531–5

    PubMed  CAS  Google Scholar 

  119. Davous P (1998) CADASIL: a review with proposed diagnostic criteria. Eur J Neurol 5: 219–33

    PubMed  Google Scholar 

  120. Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG, Krebs MO, Julien J, Dubois B, Ducrocq X, et al (1995) Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet 346 (8980): 934–9

    PubMed  CAS  Google Scholar 

  121. Dichgans M, Mayer M, Uttner I, Bruning R, Muller-Hocker J, Rungger G, Ebke M, Klockgether T, Gasser T (1998) The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 44: 731–9

    PubMed  CAS  Google Scholar 

  122. Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Mohr JP (1999) The natural history of CADASIL: a pooled analysis of previously published cases. Stroke 30: 1230–3

    PubMed  CAS  Google Scholar 

  123. Kalimo H, Viitanen M, Amberla K, Juvonen V, Marttila R, Poyhonen M, Rinne JO, Savontaus M, Tuisku S, Winblad B (1999) CADASIL: hereditary disease of arteries causing brain infarcts and dementia. Neuropathol Appl Neurobiol 25: 257–65

    PubMed  CAS  Google Scholar 

  124. Ebke M, Dichgans M, Bergmann M, Voelter HU, Rieger P, Gasser T, Schwendemann G (1997) CADASIL: skin biopsy allows diagnosis in early stages. Acta Neurol Scand 95: 351–7

    PubMed  CAS  Google Scholar 

  125. Mayer M, Straube A, Bruening R, Uttner I, Pongratz D, Gasser T, Dichgans M, Muller-Hocker J (1999) Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL. J Neurol 246: 526–32

    PubMed  CAS  Google Scholar 

  126. Ruchoux MM, Maurage CA (1998) Endothelial changes in muscle and skin biopsies in patients with CADASIL. Neuropathol Appl Neurobiol 24: 60–5

    PubMed  CAS  Google Scholar 

  127. Paradisi M, Giubilei L, Canzona F, Angelo C, Onetti Muda A, Puddu P (1997) Ehlers-Danlos syndrome type I. Ultrastructural study. Minerva Pediatr 49: 215–9

    Google Scholar 

  128. Beighton P, Curtis D (1985) X-linked Ehlers-Danlos syndrome type V; the next generation. Clin Genet 27: 472–8

    Google Scholar 

  129. Byers PH, Holbrook KA (1990) Ehlers-Danlos syndrome In Emery AE, Rimoin DL (eds.): Principles and Practice of Medical Genetics, 2nd ed. New York, Churchill Livingstone, p. 1065

    Google Scholar 

  130. Germain D (1995) Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects. Ann Dermatol Venereol 122: 187–204

    PubMed  CAS  Google Scholar 

  131. Smith LT, Schwarze U, Goldstein J, Byers PH (1997) Mutations in the COL3A1 gene result in the EhlersDanlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. J Invest Dermatol 108: 241–7

    PubMed  CAS  Google Scholar 

  132. Albat B, Boismenu L, Thevenet A (1993) Aortic rupture in a patient with Ehlers-Danlos type IV syndrome. Presse Med 22: 1975–6

    PubMed  CAS  Google Scholar 

  133. de Wazières B, Coppère B, Durieu I, Fest T, Ninet J, Levrat R, Vuitton DA, Dupond JL (1995) Vascular and/or cardiac manifestations of type IV Ehlers-Danlos syndrome. 9 cases. Presse Med 24: 1381–5

    PubMed  Google Scholar 

  134. Wimmer PJ, Howes DS, Rumoro DP, Carbone M (1996) Fatal vascular catastrophe in Ehlers-Danlos syndrome: a case report and review.J Emerg Med 14: 25–31

    CAS  Google Scholar 

  135. Brandt T, Hausser I, Orberk E, Grau A, Hartschuh W, Anton-Lamprecht I, Hacke W (1998) Ultrastructural connective tissue abnormalities in patients with spontaneous cervicocerebral artery dissections. Ann Neurol 44: 281–5

    PubMed  CAS  Google Scholar 

  136. Lach B, Nair SG, Russel NA, Benoit BG (1987) Spontaneous carotid-cavernous fistula and multiple arterial dissections in type IV Ehlers-Danlos syndrome. J Neurosurg 66: 462–7

    PubMed  CAS  Google Scholar 

  137. Superti-Furga A, Saesseli B, Steinmann B, Bollinger A (1992) Microangiopathy in Ehlers-Danlos syndrome type IV. Int J Microcirc Clin Exp 11: 241–7

    PubMed  CAS  Google Scholar 

  138. Olgunturk FR, Tunaoglu FS, Gumus H, Beyazova U, Turkyilmaz C (1993) Diffuse arterial aneurysms in a case of Ehlers-Danlos syndrome-a case report. Angiology 44: 909–13

    PubMed  CAS  Google Scholar 

  139. Minola E, Maculotti L (1994) Multiple vascular lesions in a patient with Ehlers-Danlos type IV. Pathologica 86: 61–5

    PubMed  CAS  Google Scholar 

  140. Maeda T, Suzuki Y, Haeno S, Asada M, Hiramatsu R, Tanaka F, Okada M, Suzuki T (1996) Ehlers-Danlos syndrome and congenital heart anomalies. Intern Med 35: 200–2

    PubMed  CAS  Google Scholar 

  141. Henry C, Geiss S, Wodey E, Pennerath A, Zabot MT, Peyrol S, Plauchu H (1995) Spontaneous colonic perforations revealing Ehlers-Danlos syndrome type IV. Arch Pediatr 2: 1067–72

    PubMed  CAS  Google Scholar 

  142. Tiller GE, Cassidy SB, Wensel C, Wenstrup RJ (1998) Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III. A report of five cases. Clin Genet 53: 460–5

    Google Scholar 

  143. Engle J, Safi HJ, Abassi O, Iliopoulos DC, Dorsay D, Cartwright J Jr, Weilbaecher D (1997) Muco-polysaccharidosis presenting as paediatric multiple aortic aneurysm: first reported case. J Vasc Surg 26: 704–10

    PubMed  CAS  Google Scholar 

  144. Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L et al (1993) Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260 (5112): 1317–20

    PubMed  CAS  Google Scholar 

  145. Szymanski SC, Hummerich H, Latif F, Lerman MI, Rohrborn G, Schroder E (1993) Long range restriction map of the von Hippel-Lindau gene region on human chromosome 3p. Hum Genet 92: 282–8

    PubMed  CAS  Google Scholar 

  146. McKusick VA (1991) The defect in Marfan syndrome. Nature 352 (6333): 279–81

    PubMed  CAS  Google Scholar 

  147. Pyeritz, RE (1990) Marfan’s syndrome In Emery AE, Rimoin DL (eds.) Principles and Practice of Medical Genetics, 2nd ed. New York, Churchill Livingstone, p 1047

    Google Scholar 

  148. Dietz HC, Pyeritz RE, Hall BD, Cadle RG, Hamosh A, Schwartz J, Meyers DA, Francomano CA (1991) The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3. Genomics 9: 355–61

    PubMed  CAS  Google Scholar 

  149. Milewicz DM, Pyeritz RE, Crawford ES, Byers PH (1992) Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J Clin Invest 89: 79–86

    PubMed  CAS  Google Scholar 

  150. Segura AM, Luna RE, Horiba K, Stetler-Stevenson WG, McAllister HA Jr, Willerson JT, Ferrans VJ (1998) Immunohistochemistry of matrix metalloproteinases and their inhibitors in thoracic aortic aneurysms and aortic valves of patients with Marfan’s syndrome. Circulation 98: SI1331–511337

    Google Scholar 

  151. Raghunath M, Superti-Furga A, Godfrey M, Steinmann B (1993) Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts.Hum Genet 90: 511–5

    CAS  Google Scholar 

  152. Boileau C, Collod G, Bonnet D (1997) Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome. Arch Mal Coeur Vaiss 90: S1707 - S1712

    Google Scholar 

  153. Prahlow JA, Barnard JJ, Milewicz DM (1998) Familial thoracic aortic aneurysms and dissections. J Forensic Sci 43: 1244–9

    PubMed  CAS  Google Scholar 

  154. Kudlicki J, Drozd J, Oleszczuk J (1997) Pregnancy in women with Marfan’s syndrome. Ginekol Pol 68: 94–101

    PubMed  CAS  Google Scholar 

  155. Brees CK, GR11 SA (1995) Rupture of the external iliac artery during pregnancy: a case of type IV Ehlers-Danlos syndrome. J Ky Med Assoc 93: 553–5

    PubMed  CAS  Google Scholar 

  156. Babatasi G, Massetti M, Saloux E, Grollier G, Agostini D, Potier JC, Khayat A (1998) Ehlers-Danlos disease revealed during pregnancy through the diagnosis of aortic dissection. Arch Mal Coeur Vaiss 91: 83–6

    PubMed  CAS  Google Scholar 

  157. Rasmussen LA, Lund JT, Pettersson G (1998) Marfan syndrome and pregnancy. Ugeskr Laeger 160: 6219–20

    PubMed  CAS  Google Scholar 

  158. Gott VL (1998) Antoine Marfan and his syndrome: one hundred years later. Md Med J 47: 247–52

    PubMed  CAS  Google Scholar 

  159. Antman EM (1994) Current diagnosis and prescription for Marfan’s syndrome: When to operate ? Journal of Cardiac Surgery 9: S174 - S176

    Google Scholar 

  160. Gott VL, Cameron DE, Pyeritz RE, Gillinov AM, Greene PS, Stone CD, Alejo DE, McKusick VA (1994) Composite graft repair of Marfan aneurysm of the ascending aorta: results in 150 patients. J Card Surg 9: 482–9

    PubMed  CAS  Google Scholar 

  161. Eliashar R, Sichel JY, Biron A, Dano I (1998) Multiple gastrointestinal complications in Marfan syndrome. Postgrad Med J 74: 495–7

    PubMed  CAS  Google Scholar 

  162. Paternoster DM, Santarossa C, Vettore N, Dalla Pria S, Grella P (1998) Obstetric complications in Marfan’s syndrome pregnancy. Minerva Ginecol 50: 441–3

    PubMed  CAS  Google Scholar 

  163. Mulvihill JJ, Parry DM, Sherman JL, Pikus A, Kaiser-Kupfer MI, Eldridge R (1990) NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update. Ann Intern Med 113: 39–52

    Google Scholar 

  164. Gutmann DH, Collins FS (1993) The neurofibromatosis type 1 gene and its protein product, neurofibromin. Neuron 10: 335–43

    PubMed  CAS  Google Scholar 

  165. Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B, et al (1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363 (6429): 515–21

    PubMed  CAS  Google Scholar 

  166. Vuong PN, Le Bourgeois P, Houissa-Vuong S, Martin P, Berrod J-L (2001) Intimai muscular fibrodysplasia responsible for an ischemic gastric ulcer in a patient with a von Recklinghausen’s disease: a case report. J Mas Vas (Paris) 26: 65–68

    CAS  Google Scholar 

  167. Planche C, Camilleri JP, El Abdel Hafez A, Zannier D, Mercier JN, Artru B (1983) Lesions of the aortic arch in Recklinghausen’s disease. Arch Mal Coeur Vaiss 76: 607–13

    PubMed  CAS  Google Scholar 

  168. Debure C, Fiessinger JN, Bruneval P, Vuong NP, Cormier IM, Housset E (1984) Multiple arterial lesions in von Recklinghausen’s disease. A case. Presse Med 13: 1776–8

    Google Scholar 

  169. Nopajaroonsri C, Lurie AA (1996) Venous aneurysm, arterial dysplasia, and near-fatal hemorrhages in neurofibromatosis type 1. Hum Pathol 27: 982–5

    PubMed  CAS  Google Scholar 

  170. Finley JL, Dabbs DJ (1988) Renal vascular smooth muscle proliferation in neurofibromatosis. Hum Pathol 19: 107–10

    PubMed  CAS  Google Scholar 

  171. Edwards MJ, Graham JM Jr (1990) Posterior nuchal cystic hygroma. Clin Perinatol 17: 611–40

    PubMed  CAS  Google Scholar 

  172. Langer JC, Fitzgerald PG, Desa D, Filly RA, Golbus MS, Adzick NS, Harrison MR (1990) Cervical cystic hygroma in the fetus: clinical spectrum and outcome. J Pediatr Surg 25: 58–61

    PubMed  CAS  Google Scholar 

  173. Roth A (1984) Lymphangiectasies disséminées cutanées congénitales, pleurales et intestinales. Arch Anat Cytol Pathol 32: 349–52

    PubMed  CAS  Google Scholar 

  174. Pruvo JP, Rufenacht D, Leclerc X, Merland JJ (1996) Malformations vasculaires de la moelle. Feuillets de Radiologie 36: 471–84

    Google Scholar 

  175. Ahr DJ, Rickles FR, Hoyer LW, O’Leary DS, Conrad ME (1977) von Willebrand’s disease and hemorrhagic telangiectasia: association of two complex disorders of hemostasis resulting in life-threatening hemorrhage. Am J Med 62: 452–8

    Google Scholar 

  176. Gilford H (1904) Ateleiosis and progeria: continuous youth and premature old age. Brit Med J 2: 914–8

    Google Scholar 

  177. Erdem N, Gunes AT, Avci O, Osma E (1994) A case of Hutchinson-Gilford progeria syndrome mimicking scleredema in early infancy. Dermatology 188: 318–21

    PubMed  CAS  Google Scholar 

  178. Baker PB, Baba N, Boesel CP (1981) Cardiovascular abnormalities in progeria. Case report and review of the literature. Arch Pathol Lab Med 105: 384–6

    Google Scholar 

  179. Ha JW, Shim WH, Chung NS (1993) Cardiovascular findings of Hutchinson-Gilford syndrome–a Doppler and two-dimensional echocardiographic study. Yonsei Med J 34: 352–5

    PubMed  CAS  Google Scholar 

  180. Matsuo S, Takeuchi Y, Hayashi S, Kinugasa A, Sawada T (1994) Patient with unusual Hutchinson-Gilford syndrome (progeria). Pediatr Neurol 10: 237–40

    PubMed  CAS  Google Scholar 

  181. Dyck, J D, David TE, Burke B, Webb GD, Henderson MA, Fowler RS (1987) Management of coronary artery disease in Hutchinson-Gilford syndrome. J. Pediat. 111: 407–10

    PubMed  CAS  Google Scholar 

  182. Monu JU, Benka-Coker LB, Fatunde Y (1990) Hutchinson-Gilford progeria syndrome in siblings. Report of three new cases. Skeletal Radiol 19: 585–90

    Google Scholar 

  183. Parkash H, Sidhu SS, Raghavan R, Deshmukh RN (1990) Hutchinson-Gilford progeria: familial occurrence. Am J Med Genet 36: 431–3

    PubMed  CAS  Google Scholar 

  184. Riedel H (1980) Morphologic contribution to a progeria syndrome (Hutchinson-Gilford). Zentralbi Allg Pathol 124: 410–5

    CAS  Google Scholar 

  185. Paraf F, Bruneval P (1996) Arterial fibromuscular dysplasia and Bourneville’s tuberous sclerosis. Ann Pathol 16: 203–6

    PubMed  CAS  Google Scholar 

  186. Gaines Jr JJ (1989) The pathology of alkaptonuric ochronosis. Hum Pathol 20: 40–6

    PubMed  Google Scholar 

  187. Kenny D, Ptacin MJ, Bamrah VS, Almagro U (1990) Cardiovascular ochronosis: a case report and review of the medical literature. Cardiology 77: 477–83

    PubMed  CAS  Google Scholar 

  188. Moghadam BK, Zadeh JY, Gier RE (1993) Ataxia-telangiectasia. Review of the literature and a case report. Oral Surg Oral Med Oral Pathol 75: 791–7

    Google Scholar 

  189. Amromin GD, Boder E, Teplitz R (1979) Ataxia-telangiectasia with a 32 year survival. A clinico-pathological report. J Neuropathol Exp Neurol 38: 621–43

    Google Scholar 

  190. Donner MG, Schwandt P, Richter WO (1997) Homocysteine and coronary heart disease. Is slight or moderate homocysteinemia related to increased risk of coronary heart disease ? Fortschr Med 115: 24–30

    PubMed  CAS  Google Scholar 

  191. Almgren B, Eriksson L, Hemmingsson A, Hillerdal G, Larsson E, Aberg H (1978) Abdominal aortic aneurysm in homocystinuria. Acta Chir Scand 144: 545–8

    PubMed  CAS  Google Scholar 

  192. McCully KS (1993) Chemical pathology of homocysteine. I. Atherogenesis. Ann Clin Lab Sci 23: 477–93

    CAS  Google Scholar 

  193. D’Angelo A, Mazzola G, Crippa L, Fermo I, Vigano D’Angelo S (1997) Hyperhomocysteinemia and venous thromboembolic disease. Haematologica 82: 211–9

    PubMed  Google Scholar 

  194. Bakker RC, Brandjes DP (1997) Hyperhomo-cysteinaemia and associated disease. Pharm World Sci 19: 126–32

    PubMed  CAS  Google Scholar 

  195. de Jong SC, van den Berg M, Rauwerda JA, Stehouwer CD (1998) Hyperhomocysteinemia and atherothrombotic disease. Semin Thromb Hemost 24: 381–5

    PubMed  Google Scholar 

  196. Muenzer J (1986) Mucopolysaccharidoses. Adv Pediatr 33: 269–302

    PubMed  CAS  Google Scholar 

  197. Pagni L, Bartolozzi L, Giacchetti D (1992) Mucopolysaccharidosis. A case report of Morquio’s type-A disease ( MPS IV-A ). Minerva Stomatol 41: 527–33

    Google Scholar 

  198. Balcavage WX, King MM (1995) Biochemistry: Examination and Board Review. Appleton and Lange, Norwalk

    Google Scholar 

  199. Factor SM, Biempica L, Goldfischer S (1978) Coronary intimai sclerosis in Morquio’s syndrome. Virchows Arch A Pathol Pathol Anat 379: 1–10

    PubMed  CAS  Google Scholar 

  200. Blackburn WE, McRoberts JW, Bhathena D, Vasquez M, Luke RG (1975) Severe vascular complications in oxalosis after bilateral nephrectomy. Ann Intern Med 82: 44–6

    PubMed  CAS  Google Scholar 

  201. Baethge BA, Sanusi ID, Landreneau MD, Rohr MS, McDonald JC (1988) Livedo reticularis and peripheral gangrene associated with primary hyperoxaluria. Arthritis Rheum 31: 1199–203

    PubMed  CAS  Google Scholar 

  202. Di Pasquale G, Ribani M, Andreoli A, Zampa GA, Pinelli G (1989) Cardioembolic stroke in primary oxalosis with cardiac involvement. Stroke 20: 1403–6

    PubMed  Google Scholar 

  203. Brett F, Kealy WF, Murnaghan D, Hogan JM (1990) Primary hyperoxaluria-a case report. Ir J Med Sci 159: 78–9

    PubMed  CAS  Google Scholar 

  204. Spiers EM, Sanders DY, Omura EF (1990) Clinical and histologic features of primary oxalosis. J Am Acad Dermatol 22: 952–6

    PubMed  CAS  Google Scholar 

  205. Winship IM, Saxe NP, Hugel H (1991) Primary oxalosis -an unusual cause of livedo reticularis. Clin Exp Dermatol 16: 367–70

    PubMed  CAS  Google Scholar 

  206. Magnani G, Fatone F, Martella D, Binetti G, Magnani B (1992) A case of oxalosis with heart and lung involvement. Cardiologia 37: 507–11

    PubMed  CAS  Google Scholar 

  207. Farreli J, Shoemaker JD, Otti T, Jordan W, Schoch L, Neu LT, Bastani B (1997) Primary hyperoxaluria in an adult with renal failure, livedo reticularis, retinopathy, and peripheral neuropathy. Am J Kidney Dis 29: 947–52

    PubMed  CAS  Google Scholar 

  208. Chopdar A (1975) Multiple major retinal vascular occlusions in sickle cell haemoglobin C disease. Br J Opthalmol 59: 493–6

    CAS  Google Scholar 

  209. Gerry Jr JL, Bulkley BH, Hutchins GM (1978) Clinicopathologic analysis of cardiac dysfunction in 52 patients with sickle cell anemia. Am J Cardiol 42: 211–6

    PubMed  CAS  Google Scholar 

  210. Ishii T, Hosoda Y (1975) Werner’s syndrome: autopsy report of one case, with a review of pathologic findings reported in the literature. J Am Geriatr Soc 23: 145–54

    PubMed  CAS  Google Scholar 

  211. Tokunaga M, Mori S, Sato K, Nakamura K, Wakamatsu E (1976) Postmortem study of a case of Werner’s syndrome. J Am Geriatr Soc 24: 407–11

    PubMed  CAS  Google Scholar 

  212. Goto M, Kato Y (1995) Hypercoagulable state indicates an additional risk factor for atherosclerosis in Werner’s syndrome. Thromb Haemost 73: 576–8

    PubMed  CAS  Google Scholar 

  213. Murano S, Nakazawa A, Saito I, Masuda M, Morisaki N, Akikusa B, Tsuboyama T, Saito Y (1997) Increased blood plasminogen activator inhibitor-1 and intercellular adhesion molecule-1 as possible risk factors of atherosclerosis in Werner syndrome. Gerontology 43 S43 - S52

    Google Scholar 

  214. Saito Y (1991) Receptor function of low-density lipoproteins in Werner’s syndrome. Gerontology 37: S48 - S55

    Google Scholar 

  215. Fine RM, Derbes VJ, Clark WI-I (1961) Blue rubber bleb nevus. Arch Dermatol 84: 144–7

    Google Scholar 

  216. Kisu T, Yamaoka K, Uchida Y, Mori H, Nakama T, Hisatsugu T, Miyaji H, Motooka M (1986) A case of blue rubber bleb nevus syndrome with familial onset. Gastroenterol Jpn 21: 262–6

    PubMed  CAS  Google Scholar 

  217. Gallione CJ, Pasyk KA, Boon LM, Lennon F, Johnson DW, Helmbold EA, Markel DS, Vikkula M, Mulliken JB, Warman ML et al (1995) A gene for familial venous malformations maps to chromosome 9p in a second large kindred. J Med Genet 32: 197–9

    PubMed  CAS  Google Scholar 

  218. Sayers CL, Goltz RW, Mottiaz J (1975) Pulmonary elastic tissue in generalized elastolysis (cutis laxa) and Marfan’s syndrome: a light and electron microscopic study. J Invest Dermatol 65: 451–7

    PubMed  CAS  Google Scholar 

  219. Mehregan AH, Lee SC, Nabai H (1978) Cutis laxa (generalized elastolysis). A report of four cases with autopsy findings. J Cutan Pathol 5: 116–26

    Google Scholar 

  220. Muster AJ, Bharati S, Herman JJ, Esterly NB, GonzalesCrussi F, Holbrook KA (1983) Fatal cardiovascular disease and cutis laxa following acute febrile neutrophilic dermatosis. J Pediatr 102: 243–8

    PubMed  CAS  Google Scholar 

  221. Heppner RL, Babbit HI, Bianchine JW, Warbasse JR (1973) Aortic regurgitation and aneurysm of sinus of Valsalva associated with osteogenesis imperfecta. Am J Cardiol 31: 654–7

    PubMed  CAS  Google Scholar 

  222. Sigmund J, Sperl W, Fink FM, Stos H (1986) Aorteisthmus-stenosen and osteogenesis imperfecta. Pediatr Pathol 21: 343–9

    CAS  Google Scholar 

  223. Vevaina JR, Mark (1988) Thoracic hemangiomatosis masquerading as interstitial lung disease. Chest 93: 657–9

    CAS  Google Scholar 

  224. Faber CN, Yousem SA, Dauber JH, Griffith BP, Hardesty RL, Paradis IL (1989) Pulmonary capillary hemangiomatosis. A report of three cases and a review of the literature. Am J Resp Dis 140: 808–13

    Google Scholar 

  225. Domingo C, Encabo B, Roig J, Lopez D, Morena J (1992) Pulmonary capillary hemangiomatosis: report of a case and review of the literature. Respiration 59: 178–80

    PubMed  CAS  Google Scholar 

  226. Mazur Y, Remberger K (1996) Pulmonary capillary hemangiomatosis as a rare cause of pulmonary hypertension. Path Res Pract 192: 290–5

    Google Scholar 

  227. Langleben D, Heneghan JM, Batten AP, Wang NS, Fitch N, Schlesinger RD, Guerraty A, Rouleau JL (1988) Familial pulmonary capillary hemangiomatosis resulting in primary pulmonary hypertension. Ann Intern Med 109: 106–9

    PubMed  CAS  Google Scholar 

  228. Tron V, Magee F, Wright JL, Colby T, Churg A (1986) Pulmonary capillary hemangiomatosis. Hum Pathol 17: 1144–50

    PubMed  CAS  Google Scholar 

  229. Burnel P, Marcon F, Lucron H, Bosser G, Gilgenkrantz S, Jonveaux P, Chery M, Worms AM (1997) Familial supra-valvular aortic stenosis. Investigation in a family and review of the literature. Arch Mal Coeur Vaiss 90: 719–24

    Google Scholar 

  230. Ozergin U, Sunam GS, Yeniterzi M, Yuksek T, Solak T, Solak H (1996) Supravalvular aortic stenosis without Williams syndrome. Thorac Cardiovasc Surg 44: 219–21

    PubMed  CAS  Google Scholar 

  231. Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT (1993) The elastin gene is disrupted by a translocation associated with supravalvular aortic steno-sis. Cell 73: 159–68

    PubMed  CAS  Google Scholar 

  232. Kruse K, Pankau R, Gosch A, Wohlfahrt K (1992) Calcium metabolism in Williams-Beuren syndrome. J Pediatr 121: 902–7

    PubMed  CAS  Google Scholar 

  233. Folger JrGM (1977) Further observations on the syndrome of idiopathic infantile hypercalcemia associated with supravalvular aortic stenosis. Am Heart J 93: 455–62

    PubMed  Google Scholar 

  234. Karmiloff-Smith A, Tyler LK, Voice K, Sims K, Udwin O, Howlin P, Davies M (1998) Linguistic dissociations in Williams syndrome: evaluating receptive syntax in online and off-line tasks. Neuropsychologia 36: 343–51

    PubMed  CAS  Google Scholar 

  235. Chiaravalloti G, Rossomando V, Quinti S, Assanta N, Ughi C, Ceccarelli M (1995) Williams-Beuren syndrome and celiac disease. Minerva Pediatr 47: 43–6

    PubMed  CAS  Google Scholar 

  236. Wessel A, Motz R, Pankau R, Bursch JH (1997) Arterial hypertension and blood pressure profile in patients with Williams-Beuren syndrome. Z Kardiol 86: 251–7

    PubMed  CAS  Google Scholar 

  237. Joyce CA, Zorich B, Pike SJ, Barber JC, Dennis NR (1996) Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. J Med Genet 33: 986–92

    PubMed  CAS  Google Scholar 

  238. Brondum-Nielsen K, Beck B, Gyftodimou J, Horlyk H, Liljenberg U, Petersen MB, Pedersen W, Petersen MB, Sand A, Skovby F, Stafanger G, Zetterqvist P, Tommerup N (1997) Investigation of deletions at 7g11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms. Hum Genet 99: 5661

    Google Scholar 

  239. Teo SH, Chan DK, Yong MH, Ng IS, Wong KY, Knight L, Ho LY (1997) Williams syndrome — the Singapore General Hospital experience. Ann Acad Med Singapore 26: 360–4

    PubMed  CAS  Google Scholar 

  240. Elcioglu N, Mackie-Ogilvie C, Daker M, Berry AC (1998) FISH analysis in patients with clinical diagnosis of Williams syndrome. Acta Paediatr 87: 48–53

    PubMed  CAS  Google Scholar 

  241. Hou JW, Wang JK, Wang TR (1998) FISH analysis in both classical and atypical cases of Williams-Beuren syn-drome. Chung Hua Min Kuo Hsiao Erh Ko I Hsueh Hui Tsa Chih 39: 398–403

    PubMed  CAS  Google Scholar 

  242. Morris CA (1998) Genetic aspects of supravalvular aortic stenosis. Curr Opin Cardiol 13: 214–9

    PubMed  CAS  Google Scholar 

  243. Tassabehji M, Metcalfe K, Karmiloff-Smith A, Carette MJ, Grant J, Dennis N, Reardon W, Splitt M, Read AP, Donnai D (1999) Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet 64: 118–25

    PubMed  CAS  Google Scholar 

  244. Lopez-Rangel E, Maurice M, McGillivray B, Friedman JM (1992) Williams syndrome in adults. Am J Med Genet 44: 720–9

    PubMed  CAS  Google Scholar 

  245. Shimamoto T, Ikeda T, Koshiji T, Nishimura K, Nomoto S, Matsuda K, Ban T (1997) A successful surgical repair of total anomalous pulmonary venous connection associated with Williams syndrome. Kyobu Geka 50: 405–8

    PubMed  CAS  Google Scholar 

  246. Uchita S, Fujiwara T, Matsuo K, Suetsugu F, Aotsuka H, Okajima Y (1998) A surgical case of supravalvular aortic stenosis with severe hypoplastic ascending aorta (diffuse type) in Williams-Beuren syndrome. Jpn J Thorac Cardiovasc Surg 46: 928–32

    PubMed  CAS  Google Scholar 

  247. van Son JA, Edwards WD, Danielson GK (1994) Pathology of coronary arteries, myocardium, and great arteries in supravalvular aortic stenosis. Report of five cases with implications for surgical treatment. J Thorac Cardiovasc Surg 108: 21–8

    Google Scholar 

  248. Sadler LS, Gingell R, Martin DJ (1998) Carotid ultrasound examination in Williams syndrome. J Pediatr 132: 354–6

    PubMed  CAS  Google Scholar 

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Vuong, P.N., Berry, C. (2002). Developmental anomalies and hereditary diseases of vessels. In: The Pathology of Vessels. Springer, Paris. https://doi.org/10.1007/978-2-8178-0786-7_14

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  • DOI: https://doi.org/10.1007/978-2-8178-0786-7_14

  • Publisher Name: Springer, Paris

  • Print ISBN: 978-2-8178-0788-1

  • Online ISBN: 978-2-8178-0786-7

  • eBook Packages: Springer Book Archive

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