hrp0086p2-p875 | Syndromes: Mechanisms and Management P2 | ESPE2016

Tricho-Rhino-Phalangeal Syndrome Type I in a Girl with Growth Hormone Deficiency

Cakir Meltem Didem , Altintas Zuhal , Bozdogan Sevcan Tug

Tricho-rhino-phalangeal syndrome Type I (TRPS I) is a rare autosomal dominant genetic disorder clinically characterized by craniofacial and skeletal abnormalities, associated with cone-shaped epiphyses, brachydactyly and short stature. Although patients with TRPS I present various degrees of short stature, there are only four reports of growth hormone deficiency in patients with TRPS I. We present the case of TRPS I and partial GH deficiency. A 15-year-old female was referred ...