Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1983 Apr;20(2):125–127. doi: 10.1136/jmg.20.2.125

A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome

M Baraitser *, J Burn , J Fixsen *
PMCID: PMC1049014  PMID: 6842545

Abstract

A brother and sister are described with a syndrome, not previously reported, of distal arthrogryposis, facial immobility, and generalised ichthyosis.

Full text

PDF
125

Images in this article

Selected References

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

  1. Alves A. F., Azevedo E. S. Recessive form of Freeman-Sheldon's syndrome or 'whistling face',. J Med Genet. 1977 Apr;14(2):139–141. doi: 10.1136/jmg.14.2.139. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Cantú J. M., Rivera H., Nazará Z., Rojas Q., Hernández A., García-Cruz D. Guadalajara camptodactyly syndrome. A distinct probably autosomal recessive disorder. Clin Genet. 1980 Sep;18(3):153–159. [PubMed] [Google Scholar]
  3. Goodman R. M., Katznelson M. B., Hertz M., Katznelson A. Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome. J Med Genet. 1976 Apr;13(2):136–141. doi: 10.1136/jmg.13.2.136. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Hall J. G., Reed S. D., Greene G. The distal arthrogryposes: delineation of new entities--review and nosologic discussion. Am J Med Genet. 1982 Feb;11(2):185–239. doi: 10.1002/ajmg.1320110208. [DOI] [PubMed] [Google Scholar]
  5. SCHWARTZ O., JAMPEL R. S. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol. 1962 Jul;68:52–57. doi: 10.1001/archopht.1962.00960030056011. [DOI] [PubMed] [Google Scholar]

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

RESOURCES