Albright hereditary osteodystrophy.
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.
Stieler
Karola
K
Charité-University Medicine Berlin, Department of Dermatology and Allergy, Clinical Research Center for Hair and Skin Science (CRC), Charitéplatz, Berlin, Germany. karola.stieler@charite.de
Schnabel
Dirk
D
Atugoda
Saman
S
Sterry
Wolfram
W
Blume-Peytavi
Ulrike
U
D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics / Q000473:pathology; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics / Q000473:pathology*; D007223:Infant; D008297:Male; D011547:Pseudohypoparathyroidism / Q000235:genetics / Q000473:pathology*; D012867:Skin / Q000473:pathology