| Title | Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II. | | Author(s) | Webber N, O'Toole EA, Paige DG, Rosser E | | Institution | Department of Dermatology, Barts and the London NHS Trust, London, UK. naomi.webber@doctors.org.uk | | Source | Pediatr Dermatol 2008 May-Jun; 25(3):401-2. | | 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. | | Language | eng | | Pub Type(s) | Journal Article
| | PubMed ID | 18577061 |
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