Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1982 Apr;19(2):130–134. doi: 10.1136/jmg.19.2.130

Autosomal recessive Klippel-Feil syndrome

Elias Oliveira Da Silva 1
PMCID: PMC1048843  PMID: 7077623

Abstract

An inbred kindred with 12 cases of Klippel-Feil syndrome (seven females and five males) is reported. Inheritance is undoubtedly autosomal recessive. The main characteristic of the syndrome is fusion of cervical vertebrae.

Full text

PDF
133

Images in this article

132Image
on p.132
133Image
on p.133

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Baga N., Chusid E. L., Miller A. Pulmonary disability in the Klippel-Feil syndrome. A study of two siblings. Clin Orthop Relat Res. 1969 Nov-Dec;67:105–110. [PubMed] [Google Scholar]
  2. Brik M., Athayde A. Bilateral Duane's syndrome, paroxysmal lacrimation and Klippel-Feil anomaly. Ophthalmologica. 1973;167(1):1–8. doi: 10.1159/000306918. [DOI] [PubMed] [Google Scholar]
  3. Cooper J. C. The Klippel-Feil syndrome. A rare cause of cervico-facial deformity. Br Dent J. 1976 Apr 20;140(8):264–268. doi: 10.1038/sj.bdj.4803748. [DOI] [PubMed] [Google Scholar]
  4. EVERBERG G., RATJEN E., SORENSEN H. WILDERVANCK'S SYNDROME. KLIPPEL-FEIL'S SYNDROME ASSOCIATED WITH DEAFNESS AND RETRACTION OF THE EYEBALL. Br J Radiol. 1963 Aug;36:562–567. doi: 10.1259/0007-1285-36-428-562. [DOI] [PubMed] [Google Scholar]
  5. Gunderson C. H., Greenspan R. H., Glaser G. H., Lubs H. A. The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine (Baltimore) 1967 Nov;46(6):491–512. doi: 10.1097/00005792-196711000-00003. [DOI] [PubMed] [Google Scholar]
  6. Hillemand B., Bonneau J. C., Joly J. P. Conjonction d'un syndrome de Turner, d'un syndrome de Rokitansky-Kuster-Hauser atypique et d'un syndrome de Klippel-Feil. Ann Med Interne (Paris) 1973 May;124(5):423–428. [PubMed] [Google Scholar]
  7. Juberg R. C., Gershanik J. J. Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents. J Med Genet. 1976 Jun;13(3):246–249. doi: 10.1136/jmg.13.3.246. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Kords H. Rokitansky-Küstner-Syndrom (Vaginalaplasie, rudimentärer Uterus) kombiniert mit Nierenaplasie, Phokomelie und multiplen Skelettfehlbildungen im Sinne eines Klippel-Feil-Syndroms. Geburtshilfe Frauenheilkd. 1976 Aug;36(8):672–677. [PubMed] [Google Scholar]
  9. Lowry R. B. The Klippel-Feil anomalad as part of the fetal alcohol syndrome. Teratology. 1977 Aug;16(1):53–56. doi: 10.1002/tera.1420160109. [DOI] [PubMed] [Google Scholar]
  10. Lynch H. T., Grissom R. L. Klippel-Feil syndrome and bicuspid aortic valve: report of a case. Nebr State Med J. 1966 Nov;51(11):428–432. [PubMed] [Google Scholar]
  11. MARTIN M. E. A Klippel-Feil syndrome in the artistic works of William Blake. Bull Hist Med. 1954 May-Jun;28(3):270–271. [PubMed] [Google Scholar]
  12. McLay K., Maran A. G. Deafness and the Klippel-Feil syndrome. J Laryngol Otol. 1969 Feb;83(2):175–184. doi: 10.1017/s0022215100070195. [DOI] [PubMed] [Google Scholar]
  13. Miyamoto C., Ishii H., Hamamoto Y. An autopsy case of the Klippel-Feil syndrome. Bull Osaka Med Sch. 1971 Jun;17(1):11–16. [PubMed] [Google Scholar]
  14. Moore W. B., Matthews T. J., Rabinowitz R. Genitourinary anomalies associated with Klippel-Feil syndrome. J Bone Joint Surg Am. 1975 Apr;57(3):355–357. [PubMed] [Google Scholar]
  15. Neidengard L., Carter T. E., Smith D. W. Klippel-Feil malformation complex in fetal alcohol syndrome. Am J Dis Child. 1978 Sep;132(9):929–930. doi: 10.1001/archpedi.1978.02120340105024. [DOI] [PubMed] [Google Scholar]
  16. PETERS J. J. Two cases of Klippel-Feil syndrome associated with severe mental subnormality. Radiography. 1962 Sep;28:316–319. [PubMed] [Google Scholar]
  17. Park I. J., Jones H. W., Nager G. T., Chen S. C., Hussels I. E. A new syndrome in two unrelated females: Klippel-Feil deformity, conductive deafness and absent vagina. Birth Defects Orig Artic Ser. 1971 May;7(6):311–317. [PubMed] [Google Scholar]
  18. Ramsey J., Bliznak J. Klippel-Feil syndrome with renal agenesis and other anomalies. Am J Roentgenol Radium Ther Nucl Med. 1971 Nov;113(3):460–463. doi: 10.2214/ajr.113.3.460. [DOI] [PubMed] [Google Scholar]
  19. Raynal L., Collard M., Koulisher L., Brasseur P. Description d'une forme rachidienne diffuse et thoracique du syndrome de Klippel-Feil à transmission récessive possible. J Belge Rhumatol Med Phys. 1973;28(6):377–385. [PubMed] [Google Scholar]
  20. SHOUL M. I., RITVO M. Clinical and roentgenological manifestations of the Klippel-Feil syndrome (congenital fusion of the cervical vertebrae, brevicollis); report of eight additional cases and review of the literature. Am J Roentgenol Radium Ther Nucl Med. 1952 Sep;68(3):369–385. [PubMed] [Google Scholar]
  21. Sherk H. H., Nicholson J. T. Cervico-oculo-acusticus syndrome. Case report of death caused by injury to abnormal cervical spine. J Bone Joint Surg Am. 1972 Dec;54(8):1776–1778. [PubMed] [Google Scholar]
  22. Sommerfeld R. M., Schweiger J. W. Cleft palate associated with Klippel-Feil syndrome. Report of a case. Oral Surg Oral Med Oral Pathol. 1969 Jun;27(6):737–739. doi: 10.1016/0030-4220(69)90141-8. [DOI] [PubMed] [Google Scholar]
  23. WILDERVANCK L. S. [A cervico-oculo-acoustic nerve syndrome]. Ned Tijdschr Geneeskd. 1960 Dec 24;104:2600–2605. [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES