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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:American journal of medical genetics Ročník 45; číslo 4; s. 519
Hlavní autoři: Lin, A E, McPherson, E, Nwokoro, N A, Clemens, M, Losken, H W, Mulvihill, J J
Médium: Journal Article
Jazyk:angličtina
Vydáno: United States 15.02.1993
Témata:
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
On-line přístup:Zjistit podrobnosti o přístupu
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
Popis
Shrnutí: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.
Bibliografie:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Review-5
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0148-7299
DOI:10.1002/ajmg.1320450423