Blepharophimosis With Facial And Genital Anomalies And Mental Retardation

Clinical Features

Nowaczyk and Sutcliffe (1999) described 2 sibs, a 2.5-year-old girl and a 10-month-old boy, with an apparently novel combination of congenital anomalies: blepharophimosis, ptosis, midface hypoplasia, abnormal palate, low anterior and posterior hairlines, displaced hair whorl, apparently low-set and abnormally shaped ears, trigonocephaly, dental anomalies, laryngomalacia, sensorineural hearing loss, genital anomalies, hypotonia, and mental retardation. The parents were not related. The father was from El Salvador and the mother was of English and Irish descent. There were no recognized teratogenic exposures during the pregnancies. The girl had underdeveloped labia majora, and the labia minora were easily visible. The boy had grade 1 hypospadias with a cleft prepuce, shawl scrotum, and fine lanugo hair over the scrotum.

Verloes et al. (2006) reported a family (family 7) in which 2 male sibs had blepharophimosis, severe microcephaly, severe epilepsy, mental retardation, large, bulbous nose, adducted thumbs, cleft palate, abnormal genitalia, and normal thyroid function. They classified the disorder as 'blepharophimosis-mental retardation syndrome, Verloes type.' They suggested that the phenotype in these sibs resembled that in the sibs reported by Nowaczyk and Sutcliffe (1999).

Inheritance

Nowaczyk and Sutcliffe (1999) and Verloes et al. (2006) suggested that the phenotype in their patients had an autosomal recessive mode of inheritance.