Webber N, O'Toole EA, Paige DG, Rosser E
Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II. [Journal Article]
Pediatr Dermatol 2008 May-Jun; 25(3):401-2.
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.
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