Search tips
Search criteria 


Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
J Med Genet. Dec 1987; 24(12): 733–749.
PMCID: PMC1050402
Multiple pterygium syndrome: evolution of the phenotype.
E M Thompson, D Donnai, M Baraitser, C M Hall, M E Pembrey, and J Fixsen
Hospital for Sick Children, London.
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.
Full text
Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (5.0M), or click on a page image below to browse page by page.
Articles from Journal of Medical Genetics are provided here courtesy of
BMJ Group