PITT-ROGERS-DANKS SYNDROME - FURTHER DELINEATION

The Pitt-Rogers-Danks syndrome is an entity characterized by proportio nate short stature and low weight of prenatal onset, moderate to sever e mental retardation, seizures, and typical facial changes including m icrocephaly, telecanthus, upward or downward slanting palpebral fissur es, prominent eyes, ocular abnormalities, hypoplastic maxilla, short p hiltrum, and large mouth. This is the seventh reported case, and the f irst one in which the patient also presents with optic atrophy. Autoso mal recessive inheritance has been proposed until now, however, the in creased paternal age seen in this case is suggestive of a possible aut osomal dominant de novo mutation. (C) 1995 Wiley-Liss, Inc.