Microcephaly, microphthalmos, and retinal folds: report of a family.
AUTOR(ES)
Young, I D
RESUMO
A retarded boy with microcephaly, microphthalmos, and retinal folds is described. His mother and sister showed microphthalmos and the sister was also microcephalic. Another family showing similar findings has been described, indicating that this combination of abnormalities constitutes a discrete entity showing single gene inheritance.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1049953Documentos Relacionados
- Autosomal dominant simple microphthalmos: incomplete penetrance and variable expression in a large family.
- Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures
- One sequence, two folds: a metastable structure of CD2.
- Waardenburg's syndrome. Report of a family.
- Another case of microcephaly, facial clefting, and preaxial polydactyly.
