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. © 2008 The Authors.
CITATION STYLE
Webber, N., O’Toole, E. A., Paige, D. G., & Rosser, E. (2008). Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II. Pediatric Dermatology, 25(3), 401–402. https://doi.org/10.1111/j.1525-1470.2008.00698.x
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