De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus

We report an 8-year-old girl with coarse facial features, macrocrania and d evelopmental delay. Cranial anomalies in the form of hydrocephalus and Dand y-Walker (DW) variant malformation were detected on neuro-imaging. Karyotyp ing revealed a de novo interstitial deletion of bands 3q25.1 to 3q25.33, De letion of the 3q24-q26 region appears to be associated with a somewhat simi lar constellation of findings of craniofacial dysmorphism (broad and depres sed nasal bridge and low set posteriorly rotated ears), mental retardation, congenital heart defects, and central nervous system malformations. Clin D ysmorphol 10: 193-196 (C) 2001 Lippincott Williams & Wilkins.