X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome.Am J Med Genet. 1996 Dec 11; 66(2):179-83.AJ
We describe a male and his sister's son with microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, severe mental deficiency, progressive spasticity and growth retardation. Both affected males have brachycephaly, upslanting palpebral fissures, epicanthal folds, highly arched palate, small mouth, and retrognathia. Two maternal cousins of the propositus's mother may also have been affected. Chromosomal and metabolic findings in the propositus were normal. To our knowledge, this disorder has not been reported before as an X-linked syndrome.