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

作者：Simsek Kiper Pelin Ozlem^*; Utine Gulen Eda; Alanay Yasemin; Aktas Dilek; Alikasifoglu Mehmet; Boduroglu Koray

来源：Turkish Journal of Pediatrics, 2011, 53(5): 558-560.

• chromosome 2q37 microdeletion
• brachydactyly
• psychomotor and growth retardation
• Albright hereditary osteodystrophy-like phenotype

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.

• 出版日期2011-10