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Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?


Schinzel, Albert (1979). Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome? Helvetica Paediatrica Acta, 34(2):141-146.

Abstract

A male patient presented with a pattern of congenital malformations including macrocephaly, absence of the corpus callosum, hypertelorism, small nose, bilateral inguinal hernias, postaxial polydactyly of all limbs and duplication with syndactyly of the big toes. His development was marked by growth retardation, repeated infections, cyanotic spells, seizures, and gross motor and mental retardation. This case probably represents a newly recognized malformation syndrome of hitherto unknown etiology.

Abstract

A male patient presented with a pattern of congenital malformations including macrocephaly, absence of the corpus callosum, hypertelorism, small nose, bilateral inguinal hernias, postaxial polydactyly of all limbs and duplication with syndactyly of the big toes. His development was marked by growth retardation, repeated infections, cyanotic spells, seizures, and gross motor and mental retardation. This case probably represents a newly recognized malformation syndrome of hitherto unknown etiology.

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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:May 1979
Deposited On:24 Oct 2023 15:55
Last Modified:29 Apr 2024 01:40
Publisher:Schwabe
ISSN:0018-022X
OA Status:Closed
Related URLs:https://api.semanticscholar.org/CorpusID:34609134 (Organisation)
PubMed ID:457430
Other Identification Number:Corpus ID: 34609134