Microcephaly, microphthalmos, and retinal folds: report of a family.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D008850:Microphthalmos / Q000235:genetics*; D012160:Retina / Q000002:abnormalities*