The Turkish Journal of Pediatrics 2011 , Vol 53 , Num 5
A Rare Case of 2q37 Microdeletion with Albright Hereditary Osteodystrophy-Like Phenotype
1Pediatric Genetics Unit, Department of Pediatrics, and 2Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. 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. Keywords : chromosome 2q37 microdeletion, brachydactyly, psychomotor and growth retardation, Albright hereditary osteodystrophy-like phenotype.
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