hrp0082p2-d2-461 | Growth (1) | ESPE2014

Anophthalmia, Abnormal Pituitary Development, and Suboptimal Response to GH Therapy in Two Children With Microdeletions of 14q22q23

Dusatkova Petra , Slamova Zuzana , Sumnik Zdenek , Simandlova Martina , Zemankova Elsa , Sedlacek Zdenek , Lebl Jan

Background: Microdeletions of 14q22q23 have been associated with eye abnormalities. Other symptoms in deletion carriers are less well recognized.Objective and hypotheses: We focused on growth characteristics and response to GH treatment in two unrelated children with 14q22q23 deletions.Method: Array comparative genomic hybridisation (aCGH).Results: Both patients displayed bilateral anophthalmia. Their brain M...