A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype
TURKISH JOURNAL OF PEDIATRICS, cilt.53, sa.5, ss.558-560, 2011 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 53 Sayı: 5
- Basım Tarihi: 2011
- Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.558-560
- Hacettepe Üniversitesi Adresli: Evet
Özet
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.