A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype

Turk J Pediatr. 2011 Sep-Oct;53(5):558-60.

Abstract

Chromosome 2q37 microdeletion syndrome is a rare disorder characterized by mild-moderate psychomotor and growth retardation, autistic-like behavior, Albright hereditary osteodystrophy-like metacarpal/metatarsal shortening, and facial characteristics. We here report on a patient with 2q37 microdeletion presenting with learning difficulty, hyperactivity and attention deficit. Physical examination revealed psychomotor and growth retardation, facial dysmorphism and brachydactyly, suggestive of Albright hereditary osteodystrophy-like phenotype. Laboratory evaluation revealed 46, XX.ish subtel(2q)(D2S447-) confirming 2q37 microdeletion. Chromosome 2q37 microdeletion syndrome should be considered in the differential diagnosis of patients presenting with psychomotor and growth retardation and an Albright hereditary osteodystrophy-like phenotype, especially in the presence of brachydactyly, even if the characteristic facial features are missing.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 2 / genetics*
  • Female
  • Fibrous Dysplasia, Polyostotic / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Phenotype
  • Pseudohypoparathyroidism