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Pediatr Dermatol ; 28(2): 135-7, 2011.
Article in English | MEDLINE | ID: mdl-20738794

ABSTRACT

Albright hereditary osteodystrophy with pseudohypoparathyroidism is due to maternal loss-of-function mutations in the GNAS gene. Its typical clinical features encompass obesity, a round face and a short neck, osteoma of the skin, endocrinological abnormalities, and psychomotoric retardation. Here we present a 10-month-old Tunisian boy with a classical course of this rare disease.


Subject(s)
Hyperpigmentation/pathology , Pseudohypoparathyroidism/pathology , Fibrous Dysplasia, Polyostotic/genetics , Fibrous Dysplasia, Polyostotic/pathology , Humans , Hyperpigmentation/genetics , Infant , Male , Pseudohypoparathyroidism/genetics , Skin/pathology
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