Cutaneous Features Associated with Microcephalic Osteodysplastic Primordial Dwarfism Type II
Version of Record online: 9 JUN 2008
© 2008 The Authors. Journal compilation © 2008 Blackwell Publishing, Inc.
Volume 25, Issue 3, pages 401–402, May/June 2008
How to Cite
WEBBER, N., O’TOOLE, E. A., PAIGE, D. G. and ROSSER, E. (2008), Cutaneous Features Associated with Microcephalic Osteodysplastic Primordial Dwarfism Type II. Pediatric Dermatology, 25: 401–402. doi: 10.1111/j.1525-1470.2008.00698.x
- Issue online: 9 JUN 2008
- Version of Record online: 9 JUN 2008
Abstract: We present an 18-month-old Pakistani girl who had short stature, craniofacial dysmorphism, and multiple café-au-lait spots. After consultation with the geneticists, microcephalic osteodysplastic primordial dwarfism type II was diagnosed (MIM210720). The presence of consanguinity in reported families is suggestive of autosomal recessive inheritance.