Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II.
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.
Webber
Naomi
N
Department of Dermatology, Barts and the London NHS Trust, London, UK. naomi.webber@doctors.org.uk
O'Toole
Edel A
EA
Paige
David G
DG
Rosser
Elisabeth
E
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