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Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: A new syndrome


Schinzel, Albert; Schmid, W (1980). Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: A new syndrome. American Journal of Medical Genetics, 6(3):241-249.

Abstract

Two unrelated patients, a 4-year-old boy and a 2 1/2-year-old girl, presented with a similar pattern of abnormalities. Both had severe mental retardation, macrocephaly, absence of the corpus callosum, unusual facial appearance, duplication of hallucal phalanges, postaxial hexadactyly of finger phalanges, and 2/3-syndactyly of toes. The boy also had postaxial hexadactyly of toe phalanges, inguinal hernias and umbilical hernia, and growth retardation. We suspect a common cause of this apparently “new” syndrome, most likely a gene mutation.

Abstract

Two unrelated patients, a 4-year-old boy and a 2 1/2-year-old girl, presented with a similar pattern of abnormalities. Both had severe mental retardation, macrocephaly, absence of the corpus callosum, unusual facial appearance, duplication of hallucal phalanges, postaxial hexadactyly of finger phalanges, and 2/3-syndactyly of toes. The boy also had postaxial hexadactyly of toe phalanges, inguinal hernias and umbilical hernia, and growth retardation. We suspect a common cause of this apparently “new” syndrome, most likely a gene mutation.

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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:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), multiple congenital anomalies/mental retardation (TWA/MR) syndrome, shortness of stature, hallux duplication, postaxial hexadactyly, absence of corpus callosum, hernias, acrocallosal syndrome
Language:English
Date:1 January 1980
Deposited On:20 Jan 2023 11:42
Last Modified:28 Apr 2024 01:45
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0148-7299
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/ajmg.1320060308