Agenesis of the Corpus Callosum with Rare Dysmorphic Features

Agenesis of corpus callosum is a common congenital or developmental malformation of brain. This is a case report of 13 year old female presented with delayed milestones, mental retardation, refractory hypertension and pallor since childhood. She had dysmorphic facies in the form of thick eyebrows, hypertelorism, low anterior hairline, hirsuitism, broad nose, thickened lips and low set ears. Upper limbs examination revealed brachydactyly and prominent finger pads. Lower limbs showed hyperkeratotic plaques with rough skin broad feet and short 4 & 5 toes with generalized hypertrichosis. Dignosis reported association with rare dysmorphic features, hypertrichosis and refractory hypertension with normal karyotyping. It is important to be aware of the features of agenesis of the corpus callosum, to distinguish it from other syndromes and instigate a search for further, more serious, anomalies with which it may be associated.