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


Simsek-Kiper P. O. , ÜTİNE G. E. , Alanay Y. , Aktas D., ALİKAŞİFOĞLU M., Boduroglu K.

TURKISH JOURNAL OF PEDIATRICS, cilt.53, ss.558-560, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 53 Konu: 5
  • Basım Tarihi: 2011
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.558-560

Özet

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.