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Cutaneous Features Associated with Microcephalic Osteodysplastic Primordial Dwarfism Type II
Author(s) -
WEBBER NAOMI,
O’TOOLE EDEL A.,
PAIGE DAVID G.,
ROSSER ELISABETH
Publication year - 2008
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2008.00698.x
Subject(s) - dwarfism , short stature , medicine , consanguinity , girl , craniofacial , microcephaly , pediatrics , endocrinology , genetics , biology , gene , psychiatry
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.