Further delineation of the Baller-Gerold syndrome

Three new patients with the Baller-Gerold syndrome bring the number of reported cases to 20. In addition to craniosynostosis involving various sutures and preaxial reduction defects of variable severity, affected patients may have anal, urogenital, cardiac, central nervous system, and vertebral defe...

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Bibliographic Details
Published in:American journal of medical genetics Vol. 45; no. 4; p. 519
Main Authors: Lin, A E, McPherson, E, Nwokoro, N A, Clemens, M, Losken, H W, Mulvihill, J J
Format: Journal Article
Language:English
Published: United States 15.02.1993
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Adult
Anal Canal - abnormalities
Central Nervous System - abnormalities
Craniosynostoses - genetics
Craniosynostoses - pathology
Female
Heart Defects, Congenital - genetics
Humans
Infant, Newborn
Pregnancy
Spine - abnormalities
Syndrome
Thumb - abnormalities
Urogenital Abnormalities
ISSN:0148-7299
Online Access:Get more information
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Summary:Three new patients with the Baller-Gerold syndrome bring the number of reported cases to 20. In addition to craniosynostosis involving various sutures and preaxial reduction defects of variable severity, affected patients may have anal, urogenital, cardiac, central nervous system, and vertebral defects. Autosomal recessive inheritance is supported by the presence of affected sibs and parental consanguinity.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Review-5
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
ISSN:0148-7299
DOI:10.1002/ajmg.1320450423