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The popliteal pterygium syndrome: distinct phenotypic variation in two families


Hammer, J; Kläusler, M; Schinzel, Albert (1989). The popliteal pterygium syndrome: distinct phenotypic variation in two families. Helvetica Paediatrica Acta, 43(5-6):507-514.

Abstract

Two families with two and four members, respectively, affected with the autosomal dominantly inherited popliteal pterygium syndrome (PPS), are reported. In both, only the proposita revealed the full pattern of the PPS including lip pits, clefts, gingival synechiae, popliteal pterygia, syndactyly and genital hypoplasia. One patient in addition had bilateral meatal atresia, a finding hitherto unreported in patients with this syndrome. In both families, one parent and in one, additional members were mildly affected, and both families include members with lip pits as the only manifestation of the PPS. This syndrome has to be considered in patients manifesting only lip pits with or without clefts.

Abstract

Two families with two and four members, respectively, affected with the autosomal dominantly inherited popliteal pterygium syndrome (PPS), are reported. In both, only the proposita revealed the full pattern of the PPS including lip pits, clefts, gingival synechiae, popliteal pterygia, syndactyly and genital hypoplasia. One patient in addition had bilateral meatal atresia, a finding hitherto unreported in patients with this syndrome. In both families, one parent and in one, additional members were mildly affected, and both families include members with lip pits as the only manifestation of the PPS. This syndrome has to be considered in patients manifesting only lip pits with or without clefts.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Health Sciences > Pediatrics, Perinatology and Child Health
Uncontrolled Keywords:Genetics, Genetics (clinical)
Language:English
Date:June 1989
Deposited On:24 Oct 2023 15:56
Last Modified:29 Apr 2024 01:40
Publisher:Schwabe
ISSN:0018-022X
OA Status:Closed
PubMed ID:2745146
Other Identification Number:Corpus ID: 25003427
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