title: Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II.
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.
authors.affiliation: Department of Dermatology, Barts and the London NHS Trust, London, UK. naomi.webber@doctors.org.uk
authors.forename: Naomi
authors.initials: N
authors.lastname: Webber
authors.forename: Edel A
authors.initials: EA
authors.lastname: O'Toole
authors.forename: David G
authors.initials: DG
authors.lastname: Paige
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Rosser
mesh_terms: D000015:Abnormalities, Multiple; D019080:Cafe-au-Lait Spots; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D004392:Dwarfism; D005260:Female; D006801:Humans; D017496:Hypopigmentation; D007223:Infant; D008831:Microcephaly; D010009:Osteochondrodysplasias; D014071:Tooth Abnormalities