title: A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.
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.
authors.affiliation: Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Pelin Ozlem
authors.initials: PO
authors.lastname: Simşek-Kiper
authors.forename: Gülen Eda
authors.initials: GE
authors.lastname: Utine
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
authors.forename: Dilek
authors.initials: D
authors.lastname: Aktaş
authors.forename: Mehmet
authors.initials: M
authors.lastname: Alikaşifoğlu
authors.forename: Koray
authors.initials: K
authors.lastname: Boduroğlu
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype; D011547:Pseudohypoparathyroidism