X-LINKED MICROCEPHALY, MICROPHTHALMIA, MICROCORNEA, CONGENITAL CATARACT, HYPOGENITALISM, MENTAL DEFICIENCY, GROWTH-RETARDATION, SPASTICITY - POSSIBLE NEW SYNDROME

We describe a male and his sister's son with microcephaly, microphthal mia, microcornea, congenital cataract, hypogenitalism, severe mental d eficiency, progressive spasticity and growth retardation. Both affecte d males have brachycephaly, upslanting palpebral fissures, epicanthal folds, highly arched palate, small mouth, and retrognathia. Two matern al cousins of the propositus's mother may also have been affected. Chr omosomal and metabolic findings in the propositus were normal. To our knowledge, this disorder had not been reported before as an X-linked s yndrome. (C) 1996 Wiley-Liss, Inc.