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.