A previously undescribed syndrome of thoracic dysplasia and communicating hydrocephalus in two sibs, one diagnosed prenatally by ultrasound.
AUTOR(ES)
Winter, R M
RESUMO
We describe two opposite sexed sibs, the offspring of consanguineous Pakistani parents, with a previously undescribed syndrome. The main features are short ribs with a narrow chest and thoracic dysplasia, mild shortening of the limbs, communicating hydrocephalus, and developmental delay. One sib was diagnosed prenatally by ultrasound at 18 weeks' gestation. The inheritance of the condition is presumed to be autosomal recessive.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1049995Documentos Relacionados
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