Craniosynostosis and kidney malformation in a case of Hennekam syndrome.
Am J Med Genet
; 57(1): 66-8, 1995 May 22.
Article
en En
| MEDLINE
| ID: mdl-7645602
ABSTRACT
Hennekam syndrome is a rare autosomal recessive syndrome which was described for the first time in 1989. Here, we present a girl with intestinal lymphangiectasia, severe lymphedema of limbs, seizures, mild mental retardation, and facial anomalies consistent with the diagnosis of Hennekam syndrome. In addition, she had an ectopic kidney and craniosynostosis of the coronal suture, 2 manifestations not previously reported in this syndrome. While the molecular basis of Hennekam syndrome remains, as yet, unknown, this report illustrates its variable clinical expression.
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Banco de datos:
MEDLINE
Asunto principal:
Craneosinostosis
/
Riñón
/
Linfedema
/
Discapacidad Intelectual
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Año:
1995
Tipo del documento:
Article