hrp0092p3-163 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Endocrinological Evaluation of Male Patient with Floating-Harbor Syndrome –case Report

Okońska Maja , Myśliwiec Małgorzata , Chrzańowska Krystyńa

Patients with Floating-Harbor syndrome have broad spectrum of clinical presentation, but most of them have short stature, low birth weight, delayed bone age, delayed speech development, typical craniofacial features, anomaly of fingers and toes, cryptorchidism in males, renal anomalies, strabismus.Case report: 4 year old male patient with mutation in SRCAP gene Gln2622Ter/- is followed up in our Pediatric Endocrinology Outpatient Clinic ...