Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.
AUTOR(ES)
Winter, R M
RESUMO
An infant presenting with hydrocephalus, pseudoencephalocele, agyria, and ocular defects, consisting of anterior chamber anomalies and retinal dysplasia, is reported. This is thought to be a further case of an autosomal recessive syndrome of which six cases have been previously described.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1048743Documentos Relacionados
- Uncommon retinal vascular anomalies.
- Anhidrotic ectodermal dysplasia with lacrimal anomalies.
- Dysplasia epiphysialis punctata with ocular anomalies.
- Unilateral microcornea and enophthalmos with bilateral anterior and posterior anomalies.
- Dysplasia of the atrioventricular valves associated with conduction system anomalies.