An autosomal dominant multiple pterygium syndrome.

Journal of medical genetics ·Vol. 25 ·No. 2 ·1988-02-00 ·Pages 96-103

McKeown CM, Harris R

Abstract

Three sibs and their mother with features of a multiple pterygium syndrome are reported. Inheritance in this family is consistent with autosomal dominant inheritance with great variation in severity between affected subjects. The importance of examining other family members closely in cases of multiple pterygium is emphasised.

MeSH Terms

Abnormalities, Multiple/genetics Adolescent Adult Female Genes, Dominant Humans Intellectual Disability/genetics Male Pedigree Pterygium/genetics Scoliosis/genetics Syndactyly/genetics Syndrome

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

McKeown C M

Department of Medical Genetics, St Mary's Hospital, Manchester.

Harris R

References (5)

5 references, click to expand

[Familial pterygium syndrome with probably dominant transmission linked to the X chromosome].
Rev Invest Clin. 1973 Jul-Sep;25(3):237-44 PMID: 4757629
Limb pterygium syndromes: a review and report of eleven patients.
Am J Med Genet. 1982 Aug;12(4):377-409 PMID: 7124793
The distal arthrogryposes: delineation of new entities--review and nosologic discussion.
Am J Med Genet. 1982 Feb;11(2):185-239 PMID: 7039311
Multiple pterygium syndrome.
Am J Dis Child. 1978 Jun;132(6):609-11 PMID: 655146
Distal arthrogryposis type II: a family with varying congenital abnormalities.
Am J Med Genet. 1986 Jun;24(2):255-67 PMID: 3717209

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.25.2.96

Published

1988-02-00

Pages

96-103

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1015450

Subset

External Links

PubMed source DOI: 10.1136/jmg.25.2.96 PMC Full Text View journal details

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An autosomal dominant multiple pterygium syndrome.

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