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.
Document Type: Research Article
Affiliations: 1: Charité– University Medicine Berlin, Department of Dermatology and Allergy, Clinical Research Center for Hair and Skin Science (CRC), Charitéplatz, Berlin, Germany 2: Charité– University Medicine Berlin, Otto-Heubner-Centrum für Kinder- und Jugendmedizin, Department of Pediatric Endocrinology & Diabetes, Augustenburger Platz, Berlin, Germany
Publication date: March 1, 2011