Prenatal diagnosis of a case probably with Oral-Facial-Digital Syndrome--Gabrielli type.
Genet Couns
; 20(2): 167-72, 2009.
Article
em En
| MEDLINE
| ID: mdl-19650414
ABSTRACT
We report here a case with microcephaly, preauricular pits, cleft lip-palate, hypertelorism, multiple frenula and preaxial polydactyly. The clinical picture overlaps with many syndromes, but it is mostly consistent with oral-facial-digital syndrome, Gabrielli type. There are no previously reported cases of this syndrome presenting also with microcephaly. On the other hand, it is hard to differentiate this clinical picture from Goldenhar syndrome (Oculo-auriculo-vertebral spectrum), and oculo-auriculo-fronto-nasal syndrome because of many overlapping features.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Orofaciodigitais
/
Diagnóstico Pré-Natal
/
Ultrassonografia Pré-Natal
/
Cordocentese
/
Síndrome de Goldenhar
/
Doenças do Prematuro
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article