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Phocomelia and additional anomalies in two sisters


Schinzel, Albert (1990). Phocomelia and additional anomalies in two sisters. Human Genetics, 84(6):539-541.

Abstract

Two daughters of non-consanguineous normal parents had phocomelia of both lower extremities with 4-toed feet. The older sister also had phocomelia of the left upper extremity with 5 finger rays; she died immediately after birth. Autopsy disclosed a congenital diaphragmatic hernia, common mesentery and agenesis of the gallbladder, and normal female genitalia. In addition, the younger sister showed a bony skull defect, diastasis recti, agenesis of the uterus and agenesis or atresia of the vagina, hypoplasia of the sacrum and hypo/dysplasia of the pelvic bones. Her growth and mental development were normal. The patterns of anomalies of the two sisters do not fit into any of the syndromes featuring phocomelia; there was no prenatal exposure to thalidomide or any other possible teratogen.

Abstract

Two daughters of non-consanguineous normal parents had phocomelia of both lower extremities with 4-toed feet. The older sister also had phocomelia of the left upper extremity with 5 finger rays; she died immediately after birth. Autopsy disclosed a congenital diaphragmatic hernia, common mesentery and agenesis of the gallbladder, and normal female genitalia. In addition, the younger sister showed a bony skull defect, diastasis recti, agenesis of the uterus and agenesis or atresia of the vagina, hypoplasia of the sacrum and hypo/dysplasia of the pelvic bones. Her growth and mental development were normal. The patterns of anomalies of the two sisters do not fit into any of the syndromes featuring phocomelia; there was no prenatal exposure to thalidomide or any other possible teratogen.

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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:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Internal Medicine, Metabolic Disease, Lower Extremity, Thalidomide, Diaphragmatic Hernia
Language:English
Date:May 1990
Deposited On:20 Oct 2023 11:24
Last Modified:30 Mar 2024 04:46
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00210806
PubMed ID:2338339
Other Identification Number:Corpus ID: 38388596