HEMIFACIAL HYPOPLASIA, HYPOPIGMENTATION, AND DIGITAL ANOMALY SYNDROME

Abstract

We report a unique syndrome of craniofacial anomalies, hypopigmentation and digital abnormalities in 2 unrelated children. Patient 1, a 5 y.o. male of normal intelligence, has right facial hypoplasia, coloboma, cupped ear, sensorineural heating loss, microdontia, hypodontia, and focal areas of scalp alopecia. There is linear hypopigmentat ion on the lower lip, chest, eight arm, hand and leg. The right 2nd metatarsal is short. Growth and development were normal. Patient 2 is a 7 y.o. female with facial features identical to patient 1 including right facial hypoplasia, eyelid coloboma, focal scalp alopecia and microdontia. Linear and swirled areas of hypopigmented skin are present on her left chest, shoulder and right right leg. The tight 2nd metatarsal is shott and there is postaxial polysyndactyly. This patient also has imperforate anus and a double collecting system. Intelligence is normal. Chromosome analysis of petiphetal blood and normally pigmented and depigmented skin from both patients was normal, ruling out mosaic ism. We propose that this new syndrome may involve a defect in neural crest cell prolifetation or migration causing both the facial hypoplasia and pigmentary abnormalities.