X-linked Microcephaly, Microphthalmia, Microcornea, Congenital Catarct, Hypogenitalism, Mental Deficiency Growth Retardation, Spasticity: Possible New Syndrome
1996
Abstract
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 had not been reported before as an X-linked syndrome. (C) 1996 Wiley-Liss, Inc.