Gershoni-Baruch syndrome: First report of a surviving child.
Am J Med Genet A
; 170(3): 707-11, 2016 Mar.
Article
em En
| MEDLINE
| ID: mdl-26639892
Gershoni-Baruch syndrome is an extremely rare malformation complex characterized by omphalocele, diaphragmatic hernia, radial ray defects, and cardiovascular abnormalities. Autosomal recessive inheritance was suggested. To date, academic literature described only seven patients fulfilling the diagnostic criteria for the condition. None survived the neonatal period. This study reports the first individual with Gershoni-Baruch syndrome surviving past early infancy.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Oftalmopatias Hereditárias
/
Hérnias Diafragmáticas Congênitas
/
Hérnia Umbilical
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article