Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1987 Dec;24(12):733-49.
doi: 10.1136/jmg.24.12.733.

Multiple pterygium syndrome: evolution of the phenotype

E M Thompson  1 , D Donnai, M Baraitser, C M Hall, M E Pembrey, J Fixsen
Affiliations
Case Reports

Multiple pterygium syndrome: evolution of the phenotype

E M Thompson et al. J Med Genet. 1987 Dec.

Abstract

The clinical features of the multiple pterygium syndrome are multiple congenital joint contractures, multiple skin webs, camptodactyly, vertebral anomalies, short stature, ptosis, and antimongoloid eye slant. We present 11 new cases to show the evolution of the full phenotype from birth and to confirm autosomal recessive inheritance. We emphasise morbidity secondary to respiratory impairment and that conductive deafness may be part of the syndrome.

PubMed Disclaimer

References

    1. Am J Dis Child. 1972 May;123(5):489-91 - PubMed
    1. Am J Dis Child. 1978 Jun;132(6):609-11 - PubMed
    1. Am J Med Genet. 1980;7(2):91-102 - PubMed
    1. Monatsschr Kinderheilkd. 1960 Apr;108:248-52 - PubMed
    1. J Pediatr. 1983 Jun;102(6):866-72 - PubMed

Publication types

LinkOut - more resources