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

SUMMARY: Çimçek-Kiper PÖ, Ütine GE, Alanay Y, Aktaç D, Alikaçifoglu M, Boduroglu K. A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype. Turk J Pediatr 2011; 53: 558-560. 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. Key words: chromosome 2q37 microdeletion, brachydactyly, psychomotor and growth retardation, Albright hereditary osteodystrophy-like phenotype.

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