Multiple congenital anomalies associated with an oto-palato-digital syndrome type II.
Genet Couns
; 4(4): 289-94, 1993.
Article
em En
| MEDLINE
| ID: mdl-8110417
ABSTRACT
We report the case of a male fetus with an oto-palato-digital (OPD) type II syndrome and multiple congenital anomalies (MCA) including omphalocoele, hypospadias, thoracic dysplasia, skeletal abnormalities, pulmonary hypoplasia and an absent right adrenal gland. These MCA are sometimes reported in Melnick-Needles syndrome, which leads us to discuss the possibility that the spectrum of malformations in these two syndromes might be due to two allelic forms of the same X-linked gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
/
Aberrações dos Cromossomos Sexuais
/
Crânio
/
Cromossomo X
/
Anormalidades Múltiplas
/
Sindactilia
/
Orelha Externa
/
Ossos Faciais
/
Hérnia Umbilical
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Idioma:
En
Ano de publicação:
1993
Tipo de documento:
Article