Heritable Hypermobility Syndromes

  • Peter Beighton
  • Rodney Grahame
  • Howard Bird


The heritable hypermobility syndromes are a group of disorders in which joint laxity is a prominent feature. In some of these conditions the loosejointedness predisposes to a wide variety of articular complications and, despite their rarity, they are therefore of considerable rheumatological importance.


Osteogenesis Imperfecta Joint Laxity Hypermobility Syndrome Cutis Laxa Genu Recurvatum 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


Ehlers-Danlos Syndrome

  1. Arneson MA, Hammerschmidt DE, Furcht LT, King RA (1980) A new form of Ehlers-Danlos syndrome: fibronectin corrects defective platelet function. JAMA 224: 144–147CrossRefGoogle Scholar
  2. Atalla A, Page I (1988) Ehlers-Danlos syndrome type III in pregnancy. Obstet Gynecol 71: 508–509PubMedGoogle Scholar
  3. Barabas AP (1967) Heterogeneity of the Ehlers-Danlos syndrome: Description of three clinical types and a hypothesis to explain the basic defect(s). Br Med J 2: 612–616PubMedCrossRefGoogle Scholar
  4. Beasley RP, Cohen MM (1979) A new presumably autosomal recessive form of the Ehlers-Danlos syndrome, Clin Genet 16: 19–24PubMedCrossRefGoogle Scholar
  5. Behrens-Baumann W, Gebauer HJ, Langenbeck U (1977) Syndrome of blue sclerae and keratoglobus (ocular type of Ehlers-Danlos syndrome). Arch Klin Opthalmol 204: 235–246Google Scholar
  6. Beighton P (1968a) X-linked recessive inheritance in the Ehlers-Danlos syndrome, Br Med J 3: 409–414Google Scholar
  7. Beighton P (1968b) Lethal complications of the Ehlers-Danlos syndrome. Br Med J 3: 656–660PubMedCrossRefGoogle Scholar
  8. Beighton P (1970a) The Ehlers-Danlos syndrome, William Heinemann Medical Books, London Beighton P (1970b) Serious ophthalmological complications in the Ehlers-Danlos syndrome. Br J Ophthalmol 54: 263–269Google Scholar
  9. Beighton P, Curtis D (1985) X-linked Ehlers-Danlos syndrome type V: the next generation. Clin Genet 27: 472–478PubMedCrossRefGoogle Scholar
  10. Beighton P, Horan F (1969) Orthopaedic aspects of the Ehlers-Danlos syndrome. J Bone Joint Surg [BR] 51: 414–449Google Scholar
  11. Beighton P, Murdoch JL, Votteler T (1969a) Gastrointestinal complications of the Ehlers-Danlos syndrome. Gut 10: 1004–1008PubMedCrossRefGoogle Scholar
  12. Beighton P, Price A, Lord A, Dickson E (1969b) Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological and chromosomal features of 100 patients. Ann Rheum Dis 28: 228–235PubMedCrossRefGoogle Scholar
  13. Bilkey WJ, Baxter TL, Kottke FJ, Mundale MO (1981) Muscle formation in Ehlers-Danlos syndrome. Arch Phys Med Rehabil 62: 444–448PubMedGoogle Scholar
  14. Byers PH, Holbrook KA, McGillivray B, MacLeod PM, Lowry RB (1979) Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome. Hum Genet 47: 141–150PubMedCrossRefGoogle Scholar
  15. Cabeen WR, Reza MJ, Kovick RB, Stern MS (1977) Mitral valve prolapse and conduction defects in Ehlers-Danlos syndrome. Arch Intern Med 137: 1227–1231PubMedCrossRefGoogle Scholar
  16. Chouza C, Caamano JL, De Medina O et al. (1984) Familial spastic ataxia associated with Ehlers-Danlos syndrome with platelet dysfunction. Can J Neurol Sci 11: 541–549PubMedGoogle Scholar
  17. Cole WG, Chan D, Chambers GW, Walker ID, Bateman JF (1986) Deletion of 24 amino acids from the prol(I) chain of type I procollagen in a patient with Ehlers-Danlos syndrome type VII. J Biol Chem 261: 5496–5503PubMedGoogle Scholar
  18. Danlos M (1908) Un cas de cutis Laxa avec tumeurs par contusion chronique des coudes et des genoux (Xanthome juvenile pseudodiabetique de M M Hallopeau et Mace de Lepinay). Bull Soc Franc Derm Syph 19: 70–72Google Scholar
  19. Denko CW (1978) Chernogubov’s syndrome: a translation of the first modern case report of the Ehlers-Danlos syndrome, J Rheumatol 5: 347–352PubMedGoogle Scholar
  20. Di Ferrante N, Leachman RD, Angelini P, Donnelly PV, Francis G, Almazan A, Segni G (1975) Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V. Connect Tissue Res 3: 49–53Google Scholar
  21. Ehlers E (1901) Cutis Laxa, Niegung zu Haemorrhagien in der Haut, Lockerung Mehrer Artikulationen. Derm Z 8: 173–175Google Scholar
  22. Estes JW (1968) Platelet size and function in the heritable disorders of connective tissue. Ann Intern Med 68: 1237–1249PubMedGoogle Scholar
  23. Eyre DR, Shapiro FD, Aldridge GH (1985) A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. J Biol Chem 260: 11,322–11, 329Google Scholar
  24. Goodman RM, Allison ML, (1969) Chronic temporomandibular joint subluxation in EhlersDanlos syndrome: report of case. J Oral Surg 27: 659–661PubMedCrossRefGoogle Scholar
  25. Hernandez A, Aguirre-Negrete MG, Ramirez-Soltero S, Gonzalez-Mendoza A, Martinez y Martinez R, Velazquez-Cabrera A, Cantu JM (1979) A distinct variant of the Ehlers-Danlos syndrome. Clin Genet 16: 335–339Google Scholar
  26. Hernandez A, Aguirre-Negrete MG, Liparoli JC, Canto JM (1981) Third case of a distinct variant of the Ehlers-Danlos syndrome ( EDS ). Clin Genet 20: 222–224Google Scholar
  27. Hernandez A, Aguirre-Negrete MG, Gonzales-Flores S et al. (1986) Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome. Clin Genet 30: 456–461Google Scholar
  28. Hollister DW (1982) Clinical features of Ehlers-Danlos syndrome type VIII and IX. In: Akeson WH (ed) Symposium on heritable disorders of connective tissue. CV Mosby, St Louis, pp 102–113Google Scholar
  29. Hulme JR, Wilmshurst CC (1976) Acute appendicitis in the Ehlers-Danlos syndrome. Am J Surg 132: 103–104PubMedCrossRefGoogle Scholar
  30. Kashiwagi H, Riddle JM, Abraham JP, Frame B (1965) Functional and ultrastructural abnormalities of platelets in Ehlers-Danlos syndrome. Ann Intern Med 63: 249–254PubMedGoogle Scholar
  31. Krane SM (1982) Hydroxylysine-deficient collagen disease. A form of Ehlers-Danlos syndrome type VI. In: Akeson WH (ed) Symposium on heritable disorders of connective tissue. CV Mosby, St Louis, pp 61–81Google Scholar
  32. Leier CV, Call TD, Fulkerson PK, Wooley CF (1980) The spectrum of cardiac defects in the Ehlers-Danlos syndrome, types I and III. Ann Intern Med 92: 171–178PubMedGoogle Scholar
  33. Lichtenstein JR, Martin GR, Kohn LD, Byers PH, McKusick VA (1974) Defect in conversion of procollagen in a form of Ehlers-Danlos syndrome. Science 182: 298–300CrossRefGoogle Scholar
  34. Mabille JP, Castera D, Chapuis JL, Lambert D, Chapelion (1972) Un cas de syndrome d’Ehlers-Danlos, avec acro-osteolyse. Ann Radiol 15: 781–786Google Scholar
  35. McFarland W, Fuller DE (1964) Mortality in Ehlers-Danlos syndrome due to spontaneous rupture of large arteries. N Eng J Med 271: 1309–1312CrossRefGoogle Scholar
  36. McKusick VA (1972) Heritable disorders of connective tissue, 4th edn. CV Mosby Co, St Louis BaltimoreGoogle Scholar
  37. McKusick VA (1978) Mendelian inheritance in man, 5th edn. John S Hopkins University Press, BaltimoreGoogle Scholar
  38. Nelson DL, King RA (1981) Ehlers-Danlos syndrome type VIII. J Am Acad Dermatol 5: 297–303PubMedCrossRefGoogle Scholar
  39. Onel D, Ulutin SB, Ulutin ON (1973) Platelet defect in a case of Ehlers-Danlos syndrome. Acta Haematol 50: 238–244PubMedCrossRefGoogle Scholar
  40. Osborn TG, Lichtenstein JR, Moore TL, Weiss T, Zuckner J (1981) Ehlers-Danlos syndrome presenting as rheumatic manifestations in the child, J Rheumatol 8: 79–85PubMedGoogle Scholar
  41. Pinnell SR, Krane SM, Kenzora JE, Glimcher A (1972) A heritable disorder of connective tissue: hydroxylysine deficient collagen disease. N Engl J Med 286: 1013–1020PubMedCrossRefGoogle Scholar
  42. Pope FM, Martin GR, Lichenstein JR, Penttinen R, Gerson B, Rowe DW (1975) Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci USA 72: 1314–1316PubMedCrossRefGoogle Scholar
  43. Pope FM, Martin GR, McKusick VA (1977) Inheritance of Ehlers-Danlos type IV syndrome. J Med Genet 14: 200–204PubMedCrossRefGoogle Scholar
  44. Pope FM, Nicholls AC, Jones PM, Wells RS, Lawrence D (1980) EDS IV (acrogeria): new autosomal dominant and recessive types. J R Soc Med 73: 180–186PubMedGoogle Scholar
  45. Pyeritz RE, Stolle CA, Parfrey NA, Myers JC (1984) Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen. Am J Med Genet 19: 607–622PubMedCrossRefGoogle Scholar
  46. Rao AA (1979) Ehlers-Danlos syndrome with monostotic fibrous dysplasia. J Postgrad Med 25: 186–188PubMedGoogle Scholar
  47. Ronchese F (1936) Dermatorrhexis with dermatochalasis and arthrochalasis (the so-called Ehlers-Danlos syndrome). Am J Dis Child 51: 1403–1406Google Scholar
  48. Siegel RC, Black CM. Bailey AJ (1979) Cross-linking of collagen in the X-linked Ehlers-Danlos type V. Biochem Biophys Res Commun 88: 287Google Scholar
  49. Stewart RE, Hollister DW, Rimoin DL (1977) A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring and generalised periodontitis. Birth Defects: XIII 85–93Google Scholar
  50. Steinmann B, Tuderman L, Peltonen L, Martin GR, McKusick VA, Prockop DJ (1980) Evidence for a structural mutation of procollagen type I in a patient with Ehlers-Danlos syndrome type VII. J Biol Chem 255: 8887–8893PubMedGoogle Scholar
  51. Stolle CA, Pyeritz RE, Myers JC, Prockop DJ (1985) Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. J Biol Chem 260: 1037–1944Google Scholar
  52. Sulica VI, Cooper PH, Pope FM, Hambrick GW, Garson BM, McKusick VA (1979) Cutaneous histologic features in Ehlers-Danlos syndrome: study of 21 patients. Arch Dermatol 115: 40–42PubMedCrossRefGoogle Scholar
  53. Viljoen D, Goldblatt J, Thompson D, Beighton P (1987) Ehlers-Danlos syndrome: yet another type? Clin Genet 32: 196–201PubMedCrossRefGoogle Scholar

Familial Articular Hypermobility Syndromes

  1. Beighton P (1970) The Ehlers-Danlos syndrome. William Heinemann Medical Books, London.Google Scholar
  2. Beighton P, Horan FT (1970) Dominant inheritance in familial generalised articular hypermobility. J Bone Joint Surg [BR] 52: 145–147Google Scholar
  3. Bjerkreim I, van der Hagen CB (1974) Congenital dislocation of the hip in Norway. Clin Genet 5: 433–448PubMedCrossRefGoogle Scholar
  4. Carter C, Sweetnam R (1958) Familial joint laxity and recurrent dislocations of the patella. J Bone Joint Surg [BR] 40: 664–667Google Scholar
  5. Carter C, Sweetnam R (1960) Recurrent dislocation of the patella and of the shoulder, their association with familial joint laxity. J Bone Joint Surg [BR] 42: 721–727Google Scholar
  6. Carter C, Wilkinson J (1964) Persistent joint laxity and congenital dislocation of the hip. J Bone Joint Surg [BR] 46: 40–45Google Scholar
  7. Fredensborg N (1978) Unilateral joint laxity in unilateral congenital dislocation of the hip. Int Orthop 2: 177–178CrossRefGoogle Scholar
  8. Grahame R, Edwards JC, Pitcher D, Gabell A, Harvey W (1981) A clinical and echocardiographic study of patients with the hypermobility syndrome. Ann Rheum Dis 40: 541–546PubMedCrossRefGoogle Scholar
  9. Hass J, Hass R (1958), Arthrochalasis multiplex congenita. J Bone Joint Surg [Am] 40: 663–674Google Scholar
  10. Horan FT, Beighton P (1973) Recessive inheritance of generalized joint hypermobility. Rheumatol Rehabil 12: 47–49PubMedCrossRefGoogle Scholar
  11. Horton WA, Collins DL, DeSmet AA, Kennedy JA, Schimke RN (1980) Familial joint instability syndrome. Am J Med Genet 6: 221–228PubMedCrossRefGoogle Scholar
  12. Key JA (1927) Hypermobility of joints as a sex-linked hereditary characteristic. JAMA 88: 1710–1712CrossRefGoogle Scholar
  13. Shapiro SD, Jorgenson RJ, Salinas CF (1976) Recurrent dislocation of the patella versus generalized joint laxity. The National Foundation. Birth Defects XII: 287–291Google Scholar
  14. Steinmann B, Tuderman L, Martin GR, Prockop DJ (1979) Evidence for a structural mutation of procollagen in a patient with Ehlers-Danlos syndrome type VII. Eur J Pediat 130: 203–205Google Scholar
  15. Sturkie PD (1941) Hypermobile joints in all descendants for two generations. J Hered 32: 232–234Google Scholar
  16. Whitney LF (1932) Inheritance of double-jointedness of the thumb. J Hered 23: 425–426Google Scholar
  17. Wynne-Davis R (1970a) Acetabular dysplasia and familial joint laxity, two etiologic factors in congenital dislocation of the hip. J Bone Joint Surg [BR] 52: 704–716Google Scholar
  18. Wynne-Davis R (1970b) A familial study of neonatal and late-diagnosis congenital dislocation of the hip. J Med Genet 7: 315–333CrossRefGoogle Scholar

Miscellaneous Joint Laxity Syndromes

  1. Aarskog D (1970) A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 77: 856–861PubMedCrossRefGoogle Scholar
  2. Balestrazzi P, Corrini L, Villani G, Bolla MP, Casa F, Bernasconi S (1980) The Cohen syndrome: clinical and endocrinological studies of two new cases. J Med Genet 17: 430–432PubMedCrossRefGoogle Scholar
  3. Beals RK (1969) Hypochondroplasia. J Bone Joint Surg [Am] 51: 728–739Google Scholar
  4. Beighton P (1974) Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli. Clin Genet 5: 363–367PubMedCrossRefGoogle Scholar
  5. Beighton P (1988) Inherited disorders of the skeleton. Churchill Livingstone, Edinburgh, London, New YorkGoogle Scholar
  6. Beighton P, Craig J (1973) Atlanto-axial dislocation in the Morquio syndrome. J Bone Joint Surg [BR] 55: 478–480Google Scholar
  7. Beighton PH, Kozlowski K (1980) Spondo-epi-metaphyseal dyplasia with joint laxity and severe progressive kyphoscoliosis. Skeletal Radiol 5: 205–317PubMedCrossRefGoogle Scholar
  8. Beighton P, Kozlowski K, Gericke G, Wallis G, Grobler L (1983) Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. S Afri Med J 64: 772–775Google Scholar
  9. Beighton P, Gericke G, Kozlowski K, Grobler L (1984) The manifestations and natural history of spondyloepimetaphyseal dysplasia with joint laxity. Clin Genet 26: 308–317PubMedCrossRefGoogle Scholar
  10. Benson DR, Newman DC (1981) The spine and surgical treatment in osteogenesis imperfecta. Clin Orthop 159: 147–153PubMedGoogle Scholar
  11. Bianchine JW, Murdoch JL (1969) Juvenile osteoporosis (?) in a boy with bilateral enucleation of the eyes for pseudoglioma,. The clinical delineation of birth defects. IV. Skeletal dysplasias. Birth Defects V: 225–226Google Scholar
  12. Biering A, Iverson T (1955) Osteogenesis imperfecta associated with Ehlers-Danlos syndrome. Acta Paediatr Scand 44: 279–283CrossRefGoogle Scholar
  13. Biglan AW, Brown SI, Johnson BL (1977) Keratoglobus and blue sclerae. Am J Ophthalmol 83: 225–233PubMedGoogle Scholar
  14. Birkenstock WE, Louw JH, Maze A, Sladen RN (1973) Combined Ehlers-Danlos and Marfan’s syndromes with a case report. SA Med J 47: 2097–2102Google Scholar
  15. Brown DM, Bradford DS, Gorlin RJ, Desnick RJ, Langer LO Jr, Jowsey J, Sauk JJ Jr (1976) The acro-osteolysis syndrome: morphologic and biochemical studies. J Pediatr 88: 573–580PubMedCrossRefGoogle Scholar
  16. Byers PH, Narayanan AS, Bornstein P, Hall JG (1976) An X-linked form of cutis laxa due to deficiency of lysyloxidase. Birth defects XII: 293–298Google Scholar
  17. Carey JC, Bryan DH (1978) Confirmation of the Cohen syndrome. J Pediatr 93: 239–244PubMedCrossRefGoogle Scholar
  18. Coffins GS, Siris E (1970) Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119: 433–439Google Scholar
  19. Daneshwar A, Tavakol D, Nozarian J (1979) Marfanoid hypermobility syndrome associated with coarctation of the aorta. Br Heart J 41 (5): 621–623PubMedCrossRefGoogle Scholar
  20. Debré R, Marie J, Seringe P (1937) ‘Curis Laxa’ avec dystrophies osseuses. Bull Mem Soc Med Hosp Paris 53: 1038–1039Google Scholar
  21. Desbuquois G, Grenier B, Michel J, Rossignot C (1966) Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs. Arch Fr Pediatr 23: 573–587Google Scholar
  22. Ghadimi H, Binnington VI, Pecora P (1965) Hyperlysinemia associated with mental retardation. New Engl J Med 273: 723–729PubMedCrossRefGoogle Scholar
  23. Goldblatt J, Wallis C, Viljoen D (1987) A new hypospadias-mental retardation syndrome in three brothers. Am J Dis Child 141: 1168–1169PubMedGoogle Scholar
  24. Goldblatt J, Wallis C, Viljoen D, Beighton P (1988) Cutis laxa, retarded development and joint hyper/nobility syndrome. Dysmorph Clin Genet 1: 142–144Google Scholar
  25. Gorlin RJ, Mirkin BL (1972) Multiple mucosal neuromas, phaeochromocytama, medullary carcinoma of the thyroid and marfanoid body build with muscle wasting. Syndrome of hyperplasia and neoplasia of neural crest derivatives. A unitarian concept. Z Kinderheilk 113: 313–321Google Scholar
  26. Greenberg AD (1968) Atlantoaxial dislocation. Brain 91: 655–684PubMedCrossRefGoogle Scholar
  27. Greenfield G, Romano A, Stein R, Goodman RM (1973) Blue sclerae and keratoconus: key features of a district heritable disorder of connective tissue. Clin Genet 4: 8–16PubMedCrossRefGoogle Scholar
  28. Guizar-Vazquez J, Sanchez G, Manzano C (1980) Peculiar face, pectus carinatum and joint laxity in brother and sister. Clin Genet 18 /4: 280–283PubMedCrossRefGoogle Scholar
  29. Hall BD, Langer LO, Giedion A, Smith DW, Cohen MM, Beals RK, Bradner M (1974) Langer-Giedion syndrome. Birth Defects X: 147–164Google Scholar
  30. Hall JG (1975) Pseudoachondroplasia. Birth Defects XI: 187–202Google Scholar
  31. Harris R, Cullen CH (1971) Autosomal dominant inheritance in Larsen’s syndrome. Clin Genet 2: 87–90PubMedCrossRefGoogle Scholar
  32. Heselson NG, Cremin BJ, Beighton P (1977) Pseudoachondroplasia, a report of 13 cases. Br J Radiol 50: 473–482PubMedCrossRefGoogle Scholar
  33. Holtgrewe JL, Kalen V (1986) Orthopaedic manifestations of the Lowe (oculocerebrorenal) syndrome. J Pediatr Orthop 6: 165–171PubMedCrossRefGoogle Scholar
  34. Hunter AGW, Thompson DR, Reed MH, Macrodimitris AG (1979) Night blindness, characteristic facies, and skeletal abnormalities in two brothers. J Med Genet 16: 309–313PubMedCrossRefGoogle Scholar
  35. Kiel EA, Frias JL, Victoria BE (1983) Cardiovascular manifestations in the Larsen syndrome. Pediatrics 71: 942–946PubMedGoogle Scholar
  36. Kozlowski K (1976) Pseudoachondroplastic dysplasia (Maroteaux-Lamy). Austral Radiol 20: 255–269CrossRefGoogle Scholar
  37. Kozlowski J, Beighton P (1984) Radiographic features of spondyloepimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Fortschr Geb Rontgenstr Nuklearmed Erganzungsband 141: 337–341CrossRefGoogle Scholar
  38. Kozlowski K, Harrington G, Barylak A, Bartoszewica B (1977) Multiple exostoses-mental retardation syndrome (Ale-Calo or M.E.M.R. syndrome): description of two childhood cases. Cln Pediatr 11: 219–224CrossRefGoogle Scholar
  39. Larsen LJ, Schottstaedt ER, Bost FC (1950) Multiple congenital dislocations associated with characteristic facial abnormality. J Pediatr 37: 574–581PubMedCrossRefGoogle Scholar
  40. Latta RJ, Graham CB, Aase J, Scham SM, Smith DW (1971) Larsen’s syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies. J Pediatr 78: 291–298PubMedCrossRefGoogle Scholar
  41. Livingstone B, Hirst P: (1984) Orthopedic disorders in school children with Down’s syndrome, with special reference to the incidence of joint laxity. Clin Orthop 207: 74–76Google Scholar
  42. Lowry RB, Wood BJ, Birkbeck JA, Padwick PH (1970) Cartilage-hair hypoplasia. A rare and recessive cause of dwarfism. Clin Pediatr 9: 44–46Google Scholar
  43. Lucaya J, Garcia-Conesa JA, Bosch-Banyeras JM, Pons-Peradejordi G (1981) The Coffin-Siris syndrome. A report of four cases and review of the literature. Pediatr Radio111: 35–38Google Scholar
  44. Maroteaux P (1975) Heterogeneity of Larsen’s syndrome. Arch Fr Pediatr 32: 597–603PubMedGoogle Scholar
  45. McKusick VA (1972) Heritable disorders of connective tissue, 4th edn. CV Mosby, St LouisGoogle Scholar
  46. McKusick VA, Egeland JA, Eldridge R, Krusen DE (1964) Dwarfism in the Amish. The Ellis-van Creveld syndrome. Bull Johns Hopkins Hosp 115: 306–336Google Scholar
  47. McKusick VA, Eldridge R, Hostetler JA, Egeland JA, Ruangwit U (1965) Dwarfism in the Amish. II. Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp 116: 285–326Google Scholar
  48. Meigel WN, Muller PK, Pontz BF, Sorrensen N, Spranger J (1974) A constitutional disorder of connective tissue suggesting a defect in collagen synthesis. Klin Wochenschr 52: 906–910PubMedCrossRefGoogle Scholar
  49. Mirovsky Y, Halperin N, Capeliovitch L, Tieder M (1984) Multiple exostoses-mental retardation syndrome. Clin Orthop 185: 72–76PubMedGoogle Scholar
  50. Neuhauser G, Kaveggia EG, Opitz JM (1976) Autosomal recessive syndrome of pseudogliomatous blindness, osteoporosis and mild mental retardation. Clin Genet 9: 324–332PubMedCrossRefGoogle Scholar
  51. Oberklaid F, Danks DM (1975) The Opitz trigonocephaly syndrome: a case report. Am J Dis Child 129: 1348–1349PubMedGoogle Scholar
  52. Opitz JM, Kaveggia EG (1974) The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilk 117: 1–18Google Scholar
  53. Opitz JM, Johnson RC, McCreadie SR, Smith DW (1969) The C syndrome of multiple congenital anomalies. The clinical delineation of birth defects. II. Malformation syndromes. Birth Defects V: 161–166Google Scholar
  54. Riccardi VM, Hassler E, Lubinsky MS (1977) The FG syndrome: further characterization, report of a third family, and of a sporadic case. Am J Med Genet 1: 47–58PubMedCrossRefGoogle Scholar
  55. Robertson FW (1975) Keratoconus and the Ehlers-Danlos syndrome; a new aspect of keratoconus. Med J Aust 1 (18): 571–573PubMedGoogle Scholar
  56. Robertson FW, Kozlowski K, Middleton RW (1975) Larsen’s syndrome. Three cases with multiple congenital joint dislocations and distinctive facies. Clin Genet 14: 53–660Google Scholar
  57. Saltzman CL, Herzenberg JE, Phillips WA, Hensinger RN, Hopwood NJ (1988) Thick lips, bumpy tongue and slipped capital femoral epiphysis; a deadly combination. J Pediatr Orthop 8: 219–222PubMedGoogle Scholar
  58. Schimke RN, Hartmann WH, Prout TE, Rimoin DL (1968) Phaechromocytoma, medullary thyroid carcinoma and multiple neuromas. New Engl J Med 279: 1–7PubMedCrossRefGoogle Scholar
  59. Smith TH, Holland MG, Woody NC (1971) Ocular manifestations of familial hyperlysinemia? Trans Am Acad Ophthalmol Otolaryngol 75: 355–360PubMedGoogle Scholar
  60. Spranger J, Langer LO (1970) Spondyloepiphyseal dysplasia congenita. Radiology 94: 313–322PubMedGoogle Scholar
  61. Stanley D, Seymour N (1985) The Larsen syndrome occurring in four generations of one family. Int Orthop 8: 267–272PubMedCrossRefGoogle Scholar
  62. Stiscuiglio P, Sebastio G, Andria G (1983) Severe cardiac anomalies in sibs with Larsen syndrome. J Med Genet 20: 422–424CrossRefGoogle Scholar
  63. Sugarman GI, Rimoin DL, Lachman RS (1973) The facial-digital-genital ( Aarskog) syndrome. Am J Dis Child 126: 248–252Google Scholar
  64. Teebi AS, Al Awadi SA, Marafie MJ, Bushnaq RA, Satyanath S (1988) Osteoporosispseudoglioma syndrome with congenital heart disease: a new association. J Med Genet 25: 32–36PubMedCrossRefGoogle Scholar
  65. Walker BA, Beighton PH, Murdoch JL (1969) The marfanoid hypermobility syndrome. Ann Intern Med 71: 349–352PubMedGoogle Scholar
  66. Weil UH (1981) Osteogenesis imperfecta. Clin Orthop 159: 6–10PubMedGoogle Scholar
  67. Weleber RG, Beals RK (1976) Hadju-Cheney syndrome - report of 2 cases and review of literature. J Pediatr 88: 243–249PubMedCrossRefGoogle Scholar
  68. Yancey CL, Zmijewski C, Athreya BH, Doughty RA (1984) Arthropathy of Down’s syndrome. Arthritis Rheumatol 27: 929–934CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • Peter Beighton
    • 1
  • Rodney Grahame
    • 2
  • Howard Bird
    • 3
  1. 1.MRC Research Unit for Inherited Skeletal Disorders, Medical School and Groot Schuur HospitalUniversity of Cape TownSouth Africa
  2. 2.Rheumatology Unit, Division of Medicine, United Medical and Dental SchoolsGuy’s HospitalLondonUK
  3. 3.Royal Bath HospitalUniversity of Leeds, and Clinical Pharmacology Unit (Rheumatism Research)HarrogateUK

Personalised recommendations