1.
J Dtsch Dermatol Ges
; 10(8): 593-5, 2012 Aug.
Article
in English, German
| MEDLINE
| ID: mdl-22672236
2.
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.