Skip to main content

Miscellaneous Joint Laxity Syndromes

  • Chapter
Hypermobility of Joints

Abstract

In addition to the Ehlers—Danlos syndrome (EDS) (Chap. 9) and the familial undifferentiated hypermobility syndromes (Chap. 10), joint laxity is present in a number of inherited disorders. In some it is a major feature, while in others the hypermobility is overshadowed by other syndromic components.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Aarskog D (1970) A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 77: 856–861

    Article  PubMed  CAS  Google Scholar 

  • 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: 430–432

    Article  PubMed  CAS  Google Scholar 

  • Beals RK (1969) Hypochondroplasia. J Bone Joint Surg [Am] 51: 728–739

    CAS  Google Scholar 

  • Beighton P, Craig J (1973) Atlanto-axial dislocation in the Morquio syndrome. J Bone Joint Surg [Br] 55: 478–480

    CAS  Google Scholar 

  • Beighton P (1974) Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli. Clin Genet 5: 363–367

    Article  PubMed  CAS  Google Scholar 

  • Beighton PH, Kozlowski K (1980) Spondylo-epi-metaphyseal dysplasia with joint laxity and severe progressive kyphoscoliosis. Skeletal Radiol 5: 205–212

    Article  PubMed  CAS  Google Scholar 

  • Benson DR, Newman DC (1981) The spine and surgical treatment in osteogenesis imperfecta. Clin Orthop 159: 147–153

    PubMed  Google Scholar 

  • 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 (4): 225–226

    Google Scholar 

  • Biering A, Iverson T (1955) Osteogenesis imperfecta associated with Ehlers-Danlos syndrome. Acta Paediatr Scand 44: 279–283

    Article  CAS  Google Scholar 

  • Biglan AW, Brown SI, Johnson BL (1977) Keratoglobus and blue sclerae. Am J Ophthalmol 83/2: 225–233

    PubMed  CAS  Google Scholar 

  • Birkenstock WE, Louw JH, Maze A, Sladen RN (1973) Combined Ehlers-Danlos and Marfan’s syndromes with a case report. SA Med J 47: 2097–2102

    CAS  Google Scholar 

  • 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: 573–580

    Article  PubMed  CAS  Google Scholar 

  • Byers, PH, Narayanan AS, Bornstein P, Hall JG (1976) An X-linked form of cutis laxa due to deficiency of lysyloxidase. Birth Defects 12(No 5): 293–298

    PubMed  CAS  Google Scholar 

  • Carey JC, Bryan DH (1978) Confirmation of the Cohen syndrome. J Pediatr 93: 239–244

    Article  PubMed  CAS  Google Scholar 

  • Coffins GS, Siris E (1970) Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119: 433–439

    Google Scholar 

  • Daneshwar A, Tavakol D, Nozarian J (1979) Marfanoid hypermobility syndrome associated with coarctation of the aorta. Br Heart J 41(5): 621–623

    Article  PubMed  CAS  Google Scholar 

  • Debré R, Marie J, Seringe P (1937) ‘Cutis laxa’ avec dystrophies osseuses. Bull Mem Soc Med Hosp Paris 53: 1038–1039

    Google Scholar 

  • Ghadimi H, Binnington VI, Pecora P (1965) Hyperlysinemia associated with mental retardation. New Eng J Med 273: 723–729

    Article  PubMed  CAS  Google Scholar 

  • 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: 313–321

    Article  PubMed  CAS  Google Scholar 

  • Greenberg AD (1968) Atlantoaxial dislocation. Brain 91: 655–684

    Article  PubMed  CAS  Google Scholar 

  • 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: 8–16

    Article  PubMed  CAS  Google Scholar 

  • Guizar-Vazquez J, Sanchez G, Manzano C (1980) Peculiar face, pectus carinatum and joint laxity in brother and sister. Clin Genet 18/4: 280–283

    Article  PubMed  CAS  Google Scholar 

  • Hall BD, Langer LO, Giedion A, Smith DW, Cohen MM, Beals RK, Bradner M (1974) Langer-Giedion syndrome. Birth Defects X(12): 147–164

    Google Scholar 

  • Hall JG (1975) Pseudoachondroplasia. Birth Defects XI(6): 187–202

    Google Scholar 

  • Harris R, Cullen CH (1971) Autosomal dominant inheritance in Larsen’s syndrome. Clin Genet 2: 87–90

    Article  PubMed  CAS  Google Scholar 

  • Heselson NG, Cremin BJ, Beighton P (1977) Pseudoachondroplasia, a report of 13 cases. Br J Radiol 50: 473–482

    Article  PubMed  CAS  Google Scholar 

  • Hunter AGW, Thompson DR, Reed MH, Macrodimitris AG (1979) Night blindness, characteristic facies, and skeletal abnormalities in two brothers. J Med Genet 16/4: 309–313

    Article  PubMed  CAS  Google Scholar 

  • Kozlowski K (1976) Pseudoachondroplastic dysplasia (Maroteaux-Lamy). Austral Radiol 20: 255–269

    Article  CAS  Google Scholar 

  • 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. Clin Pediatr 11: 219–224

    Article  Google Scholar 

  • Larsen LJ, Schottstaedt ER, Bost FC (1950) Multiple congenital dislocations associated with characteristic facial abnormality. J Pediatr 37: 574–581

    Article  PubMed  CAS  Google Scholar 

  • 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: 291–298

    Article  PubMed  CAS  Google Scholar 

  • 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 Radiol 11(1): 35–38

    Article  PubMed  CAS  Google Scholar 

  • Lowry RB, Wood BJ, Birkbeck JA, Padwick PH (1970) Cartilage—hair hypoplasia. A rare and recessive cause of dwarfism. Clin Pediatr 9: 44–46

    Article  CAS  Google Scholar 

  • McKusick VA, Egeland JA, Eldridge R, Krusen DE (1964) Dwarfism in the Amish. The Ellis-van Creveld syndrome. Bull Johns Hopkins Hosp 115: 306

    PubMed  CAS  Google Scholar 

  • McKusick VA, Eldridge R, Hostetler JA, Egeland JA, Ruangwit U (1965) Dwarfism in the Amish. II. Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp 116:285–326

    PubMed  CAS  Google Scholar 

  • McKusick VA (1972) Heritable disorders of connective tissue, 4th edn. CV Mosby Co, St Louis

    Google Scholar 

  • 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: 906–910

    Article  PubMed  CAS  Google Scholar 

  • Neuhauser G, Kaveggia EG, Opitz JM (1976) Autosomal recessive syndrome of pseudogliomatous blindness, osteoporosis and mild mental retardation. Clin Genet 9: 324–332

    Article  PubMed  CAS  Google Scholar 

  • Oberklaid F, Danks DM (1975) The Opitz trigonocephaly syndrome: a case report. Am J Dis Child 129: 1348–1349

    PubMed  CAS  Google Scholar 

  • 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(2): 161–166

    Google Scholar 

  • Opitz JM, Kaveggia EG (1974) The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilk 117: 1–18

    Article  PubMed  CAS  Google Scholar 

  • 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: 47–58

    Article  PubMed  CAS  Google Scholar 

  • Robertson FW (1975) Keratoconus and the Ehlers—Danlos syndrome; a new aspect of keratoconus. Med J Aust 1(18): 571–573

    PubMed  CAS  Google Scholar 

  • Robertson FW, Kozlowski K, Middleton RW (1975) Larsen’s syndrome. Three cases with multiple congenital joint dislocations and distinctive facies. Clin Genet 14: 53–60

    CAS  Google Scholar 

  • Schimke RN, Hartmann WH, Prout TE, Rimoin DL (1968) Phaeochromocytoma, medullary thyroid carcinoma and multiple neuromas. New Eng J Med 279: 1–7

    Article  PubMed  CAS  Google Scholar 

  • Smith TH, Holland MG, Woody NC (1971) Ocular manifestations of familial hyperlysinemia? Trans Am Acad Ophthalmol Otolaryngol 75: 355–360

    PubMed  CAS  Google Scholar 

  • Snranger J, Langer LO (1970) Soondvloepiphyseal dvsplasia congenita. Radiol 94: 313–322

    Google Scholar 

  • Sugarman GI, Rimoin DL, Lachman RS (1973) The facial-digital-genital (Aarskog) syndrome. Am J Dis Child 126: 248–252

    PubMed  CAS  Google Scholar 

  • Walker BA, Beighton PH, Murdoch JL (1969) The Marfanoid hypermobility syndrome. Ann Int Med 71: 349–352

    PubMed  CAS  Google Scholar 

  • Weil UH (1981) Osteogenesis imperfecta. Clin Orthop 159: 6–10

    PubMed  Google Scholar 

  • Weleber RG, Beals RK (1976) Hadju—Cheney syndrome-report of 2 cases and review of literature. J Pediatr 88: 243–249

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 1983 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Beighton, P., Grahame, R., Bird, H. (1983). Miscellaneous Joint Laxity Syndromes. In: Hypermobility of Joints. Springer, London. https://doi.org/10.1007/978-1-4471-3510-4_11

Download citation

  • DOI: https://doi.org/10.1007/978-1-4471-3510-4_11

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-3512-8

  • Online ISBN: 978-1-4471-3510-4

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics