Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Literatur
Literatur
Bennet WM, Musgrave JE, Campbell RA et al. (1973) The nephropathy of the nail-patella syndrome. Am J Med 54: 304
Ferguson-Smith MA, Aitken DA, Turleau C et al (1976) Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34. Hum Genet 34: 35
Korting GW, Gebhardt R (1967) Weitere Befunde zum Nagel-Patella-Syndrom. Arch Klin Exp Dermatol 229: 372
Pilling DW, Levick RK (1978) Radiological abnormalities associated with anomalies of the nineth chromosome. Pediatr Radiol 6: 215
Renwick JH, Lawler SD (1955) Genetical linkage between ABO and nail patella loci.Ann Hum Genet 19: 312
Spichtin H, Mihatsch MJ (1979) Diagnostic progress in familial nephropathy. Alport’s syndrome, nail-patella syndrome and benign familial hematuria. Pathol Res Pract 164: 80
Vogel H, Wiegers U (1980) Das Nail-Patella-Syndrom. Röfo 133: 555
Literatur
Creveld S van, Kozlowski K, Pietron K et al. (1971) Metaphyseal chondrodysplasia calcificans. A report of two cases. Br J Radiol 44: 773
Freyschmidt J (1993) Skeletterkrankungen. Klinisch-radiologische Diagnose und Differentialdiagnose. Springer, Berlin Heidelberg New York Tokyo, S 434
Holzmann H, Wessmann D, Schlieter A (1994) Chondrodysplasie-Hämangiom-Syndrom ( Mafucci-Syndrom ). Aktuelle Dermatol 20: 292
Kaibara N, Mitsuyasu M, Katsuki I et al (1982) Generalized enchondromatosis with unusual complications of soft tissue calcifications and hemangiomas. Skeletal Radiol 8: 43
Mafucci A (1881) Di un caso enchondroma ed angioma multiplo. Mov Med-Chir 3: 399
Spranger J, Langer LO, Wiedemann HR (1974) Bone dysplasias: an atlas of constitutional disorders of skeletal development. Saunders, Philadelphia, p 199
Spranger J, Kemperdieck H, Bakowski H et al. (1978) Two peculiar types of enchondromatosis. Pediatr Radiol 7: 215
Literatur
Freyschmidt J, Ostertag H (1988) Knochentumoren. Klinik, Radiologie, Pathologie. Springer, Berlin Heidelberg New York Tokyo
Freyschmidt J, Saure D, Dammenhain S (1981) Der fibröse metaphysäre Defekt. I. Untersuchungen zur Häufigkeit. Röfo 134: 169
Mirra JM, Gold RH, Rand F (1982) Disseminated nonossifying fibromas in association with café-au-lait spots ( Jaffé-Campanacci syndrome ). Clin Orthop 168: 192
Literatur
Braun-Falco O, Plewig G, Wolff HH (1984) Dermatologie und Venerologie, 3. Aufl. Springer, Berlin Heidelberg New York Tokyo, S 501f.
Freyschmidt J (1993) Skeletterkrankungen Klinisch-radiologische Diagnose und Differentialdiagnose. Springer, Berlin Heidelberg New York Tokyo
Literatur
Hatlinghus S,Sager M (1982) Tuberous sclerosis: bone and lung changes mimicking metastatic malignancy. Eur J Radiol 2: 90
Holland B, Kubale R, Freyschmidt J, Lucka D (1985) Radiologische Befunde beim Bourneville-PringleSyndrom. Z Hautkr 61: 1524
Rott HD, Fahsold R (1993) Klinik und Genetik der tuberösen Sklerose. Dt Ärtzebl 90: C-274
Literatur
Atherton DJ, Wells RS (1982) Juvenile elastoma and osteopoicilosis (the Buschke-011endorf syndrome). Clin Exp Dermatol 7: 109
Freyschmidt J (1993) Skeletterkrankungen. Klinisch-radiologische Diagnose und Differentialdiagnose. Springer, Berlin Heidelberg New York Tokyo
Lagier R, Mbakop A, Bigler A (1984) Osteopoikilosis: a radiological and pathological study. Skeletal Radiol 11: 161
McKusick VA (1972) Heritable disorders of connective tissue. Mosby, St. Louis
Uitto J, Santa Cruz DJ, Starcher BC et al. (1981) Biochemical and ultrastructural demonstration of elastin accumulation in the skin lesions of the Buschke-011endorf syndrome. J Invest Dermatol 76: 284
Verbov J (1977) Buschke-011endorf syndrome (disseminated dermatofibrosis with osteopoikilosis). Br J Dermatol 96: 87
Literatur
Beighton P, Cremin BJ (1980) Sclerosing bone dys- plasias. Springer, Berlin Heidelberg New York
Ginsburg LD, Sedano HO, Gorlin RJ (1970) Focal dermal hypoplasia syndrome. Am J Roentgenol 110: 561
Holden JD, Akers WA (1967) Goltz’s syndrome: focal dermal hypoplasia; combined mesoectodermal dysplasia. AMA Am J Dis Child 114: 292
Howell JB (1965) Nevus angiolipomatosus vs. focal dermal hypoplasia. AMA Arch Dermatol Syph 92: 238
Larregue M, Michel Y, Maroteaux J et al. (1973) L’ostéopathie striée et dysmorphies squelettiques associées dans l’hypoplasie dermique en aires. Rev Rhum Mal Osteoartic 6: 415
Whyte MP, Murphy WA, Fallon MD et al. (1981) Mixedsclerosing-bone-dystrophy: report of a case and review of the literature. Skeletal Radiol 6: 95
Literatur
Braun-Falco O, Plewig G, Wolff HH (1984) Dermatologie und Venerologie,. 3. Aufl. Springer, Berlin Heidelberg New York Tokyo
Garver P, Resnick D, Haghighi P et al. (1982) Melorheostosis of the axial skeleton with associated fibrolipomatous lesions. Skeletal Radiol 9: 41
Hall R (1961) A case of Melorheostosis with cutaneous haemangioma and lymphatic vesicles. J Bone Joint Surg (B) 43: 335
Höffken W, Heim G (1951) Melorheostose mit Sklerosierung der Knochen im rechten oberen Körperquadranten, Schädelbeteiligung und Hautveränderungen. Röfo 74: 289
Korting GW (1979) Dermatologie in Klinik und Praxis, Bd III 34. Thieme, Stuttgart
Morris JM, Samilson RL, Corley CL (1963) Melorheostosis. Review of the literature and report of an interesting case with a nineteen-year follow-up. J Bone Joint Surg (Am) 45: 1191
Murray RO, McCredie J (1979) Melorheostosis and the sclerotomes: a radiological correlation. Skeletal Radiol 4: 57
Raby N, Vivian G (1988) Case report 478 ( Melorheostosis of the axial skeleton with associated intrathecal lipoma ). Skeletal Radiol 17: 216
Literatur
Freyschmidt J (1993) Skeletterkrankungen. Klinisch-radiologische Diagnose und Differentialdiagnose. Springer, Berlin Heidelberg New York Tokyo
Harned RK, Buck JL, Olmsted WW et al. (1991) Extra-colonic manifestations of the familial adenomatous polyposi syndromes. Am J Roentgenol 156: 481
Literatur
Cronkhite LW, Canada WJ (1955) Generalized gastrointestinal polyposis: an unusual syndrome of polyposis, pigmentation, alopecia and onychotrophia. N Engl J Med 252: 1011
Maurer H-J, Berek L (1980) Knochen-und Gelenkveränderungen bei Ménétrier-bzw. Cronkhite-Syndrom. Röfo 132: 728
Sanders KM, Resnik CS, Owen DS (1985) Erosive arthritis in Cronkhite-Canada-Syndrome. Radiology 156: 309
Literatur
Baykal C, Gögüs A, Gürsoy EC et al. (1994) Proteus-Syndrom. Hautarzt 45: 237
Costa T, Fitch N,Azouz EM (1985) Proteus syndrome: report of two cases with pelvic lipomatosis. Pediatrics 76: 984
Maassen D, Voigtlaender V (1991) Proteus-Syndrom. Hautarzt 42: 186
Samlaska CP, Levin SW, James WD et al. (1989) Proteus-Syndrome. Arch Dermatol 125: 1009
Solomon LM, Fretzin DF, Dewald RL (1968) The epidermal nevus syndrome. Arch Dermatol 97: 273
Wiedemann HR, Burgio GR, Aldenhoff P et al. (1983) The proteus syndrome. Eur J Pediatr 140: 5
Literatur
Blinder G, Barki Y, Pezt M et al. (1984) Widespread osteolytic lesions of the long bones in basal cell nevus syndrome. Skeletal Radiol 12: 196
Camisa C, Rossana C, Little L (1985) Naevoid basal-cell carcinoma syndrome with unilateral neoplasms and pits. B J Dermatol 113: 365
Gorlin RJ, Goltz RW (1960) Multiple nevoid basal cell epithelium jaw cysts and bifid rib syndrome. N Engl J Med 262: 908
Lile HA, Rogers JF, Gerald B (1968) The basal cell nevus syndrome. Radiology 103: 214
Novak D, Bloss W (1976) Röntgenologische Aspekte des Basalzell-Naevus-Syndroms (Gorlin-GoltzSyndrom). Röfo 124: 11
Potaznik D, Steinherz P (1984) Multiple nevoid basal cell carcinoma syndrome and Hodgkin’s disease. Cancer 53: 2713
Ramström G, Anniko M (1985) Clinical and histopathologic findings in a patient with Gorlin’s Syndrome. Arch Otorhinolaryngol 241: 157
Literatur
Brogdon BG, Grow NE (1958) Chondrodysplasia calcificans congenita. Am J Roentgenol 80: 443
Korting GW et al. (Hrsg) (1980) Dermatologie in Praxis und Klinik. Band 2, 21. 11. Thieme, Stuttgart
Mason RC, Kozlowski K (1973) Chondrodysplasia punctata. Radiology 109: 145
Literatur
Braun-Falco O, Plewig G, Wolff HH (1984) Dermatologie und Venerologie, 3. Aufl. Springer, Berlin Heidelberg New York, S 476 f.
Vidal JJ, Ruiz J, Santiago T et al. (1979) Case report 106: Ichthyosiform erythroderma associated with osteolysis of the terminal tufts of the hands (and feet). Skeletal Radiol 4: 251
Literatur
Lovelock J, Griffiths H (1981) Case report 175. Skeletal Radiol 7: 214
Wall WJH, Worthington BS (1979) Skeletal changes in Refsum’s disease. Clin Radiol 30: 657
Literatur
Bureau Y, Barrière H, Thomas M (1959) Hippocratisme digital congénital avec hyperkératose palmo-plantaire et troubles osseux.Ann Dermatol Syph 86: 611
Freyschmidt J (1993) Skeletterkrankungen. Klinisch-radiologische Diagnose und Differentialdiagnose. Springer, Berlin Heidelberg New York Tokyo
Rauch HJ, Neumayer K (1981) Bureau-Barrière-Thomas-Syndrom. Eine seltene hereditäre Palmoplantarkeratose mit assoziierten Symptomen. Z Hautkr 56: 102
Thoma E, Ruzicka Th, Dornhauser G (1993). BureauBarrière-Syndrom. Hautarzt 44: 5
Literatur
Haußer I, Frantzmann Y, Lamprecht IA et al. (1993) Olmstedt-Syndrom. Hautarzt 44: 394
Kaveggia L, Afshani E, Gole D et al. (1989) Mutilating palmoplantar keratoderma. Case Report 581. Skeletal Radiol 18: 610
Nguyen TQ, Greer KE, Fisher GB Jr. et al. (1986) Papillon-Lefevre Syndrome. Report of two patients treated successfully with isotretinoin. J Am Acad Dermatol 15: 46
Literatur
Hoeffel JC, Bigard MA, Merle M et al. (1992) Epidermolysis bullosa: Radiological patterns in childhood. Röfo 157: 427
Literatur
Braun-Falco O, Plewig G, Wolff HH (1984) Dermatologie und Venerologie, 3. Aufl. Springer, Berlin Heidelberg New York Tokyo, S. 510 f.
Gaetani SA, Ferraris AM, D’Agosta A (1988) Werner’s syndrome. Skeletal Radiol 17: 298
Gerecht K, Fuhrmann U (1993) Rothmund-ThomsonSyndrom bei zwei Brüdern. HG Zeitschr Hautkrankh 68: 814
Hall JG, Pagon RA, Wilson KM (1980) Rothmund-Thomson syndrome with severe dwarfism. Am J Dis Child 134: 165
Katzenellenbogen J, Larun Z, Tiquva P (1960) A contribution to Bloom’s syndrome. Arch Dermatol 82: 177
Moss C (1990) Rothmund-Thomson syndrome: a report of two patients and a review of the literature. Br J Dermatol 122: 821
Paterson MC, Bech-Hansen NT, Smith PJ et al. (1984) Radiogenic neoplasia, cellular radiosensitivity, and faulty DNA repair. Prog Cancer Res Ther 26: 319
Sim FH, DeVries EMG, Miser JS et al. (1992) Osteoblastic osteosarcoma (grade 4) with Rothmund Thomson-syndrome. Case Report Nr. 760. Skeletal Radiol 21: 543
Literatur
Epstein CJ, Martin GM, Schultz AL et al. (1966) Werner’s syndrome: A review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine 45: 177
Gaetani SA, Ferraris AM, D’Agosta A (1988) Werner’s syndrome. Case Report 485. Skeletal Radiol 17: 298
Jacobson HG, Rifkin H, Zucker-Franklin D (1960) Werner’s syndrome: a clinical-roentgen entity. Radiology 74: 373
Literatur
Fridrich KL, Fridrich HH, Kempf KK et al. (1990) Dental implications in Ehlers-Danlos syndrome. Oral Surg Oral Med Oral Pathol 69: 431
McKusick VA (1974) Multiple forms of the Ehlers-Danlos syndrome. Arch Surg 109: 475
Sartoris DJ, Luzzatti L et al. (1981) Type IX Ehlers-Danlos syndrome. Radiology 152: 665
Literatur
Bellini F, Bardare M (1966) Su un caso di disotosi periferica. Minerva Pediatr 18: 105
Jequier S, Bellini F, Mackenzie DA (1981) Metaphyseal chondrodysplasia with ectodermal dysplasia. Skeletal Radiol 7: 107
Literatur
Ikegawa S, Nagano A, Satoyoshi E (1993) Skeletal abnormalities in Satoyoshi’s syndrome: a radiographic study of eight cases. Skeletal Radiol 22: 321
Satoyoshi E (1978) A syndrome of progressive muscle spasm, alopecia, and diarrhea. Neurology 28: 458
Satoyoshi E, Yamada K (1967) Recurrent muscle spasms of central origin. Arch Neurol 16: 254
Literatur
Goldblatt J, Sacks S, Beighton P (1978) The orthopedic aspects of Gaucher’s disease. Clin Orthop 137: 208
Goldman AB, Jacobs B (1984) Femoral neck fractures complicating Gaucher disease in children. Skeletal Radiol 12: 162
Greenfield GB (1970) Bone changes in chronic adult Gaucher’s disease. Am J Roentgenol 110: 800
Groen J (1964) Gaucher’s disease: hereditary transmission and racial distribution. Arch Intern Med 113: 543
Literatur
Chevrant-Breton J, Laudren A, Mazéas D et al. (1981) Maladie de Fabry. Lymphoèdeme et acropathie ulcèro-mutilante - un cas. Ann Dermatol Venerol (Paris) 108: 366
Fone DJ, King WE (1964) Angioceratoma corporis diffusum ( Fabry’s syndrome ). Aust Ann Med 13: 339
Lacroux R (1960) Angiokératome diffus (angiokeratoma corporis diffusum) de Fabry. Bull Soc Fr Dermatol Syph 67: 474
Sheth KJ, Bernhard GC (1979) The arthropathy of Fabry disease. Arthritis Rheum 2: 781
Wise D, Wallace HG, Jellinek EH (1962) Angiokératoma corporis diffusum. A clinical study of eight affected families. Q J Med, N Ser 31: 177
Literatur
Schmidt H, Herwig J, Greinacher I (1991) Skelettveränderungen bei Frühgeborenen mit Kupfermangel. Röfo 155: 38
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 1996 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Freyschmidt, J., Freyschmidt, G. (1996). Angeborene Erkrankungen und Entwicklungsstörungen. In: Haut-, Schleimhaut- und Skeletterkrankungen SKIBO-Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-60991-6_2
Download citation
DOI: https://doi.org/10.1007/978-3-642-60991-6_2
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-64645-4
Online ISBN: 978-3-642-60991-6
eBook Packages: Springer Book Archive