Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes.
Indian J Pediatr
;
2006 Aug; 73(8): 731-3
Artículo
en Inglés
| IMSEAR
| ID: sea-81764
ABSTRACT
We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type atrial septal defect. The karyotype was 46 XY. The combination of malformations observed overlaps with the characteristic findings of hydrolethalus syndrome, Meckel syndrome, Smith-Lemli-Opitz syndrome and pseudotrisomy 13. We discussed the differential diagnosis of the case.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Síndrome
/
Anomalías Múltiples
/
Humanos
/
Masculino
/
Recién Nacido
/
Labio Leporino
/
Fisura del Paladar
/
Resultado Fatal
/
Anomalías Craneofaciales
/
Hidrocefalia
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2006
Tipo del documento:
Artículo
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