Albright hereditary osteodystrophy

Pediatr Dermatol. 2011 Mar-Apr;28(2):135-7. doi: 10.1111/j.1525-1470.2010.01226.x.


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.

Publication types

  • Case Reports

MeSH terms

  • Fibrous Dysplasia, Polyostotic / genetics
  • Fibrous Dysplasia, Polyostotic / pathology
  • Humans
  • Hyperpigmentation / genetics
  • Hyperpigmentation / pathology*
  • Infant
  • Male
  • Pseudohypoparathyroidism / genetics
  • Pseudohypoparathyroidism / pathology*
  • Skin / pathology