Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation.

ABSTRACT:

Background

Costello syndrome is a rare syndrome of multiple congenital anomalies. The typical clinical traits include dysmorphic craniofacial features, skin hyperpigmentation and excess, feeding difficulties leading to severe postnatal growth retardation, short stature, joint hypermobility, and delayed psychomotor development. Additionally, Costello syndrome may present with an increased incidence of congenital heart disease, hypertrophic cardiomyopathy, and increased risk of both benign and malignant tumors. Furthermore, cases of patients with endocrine disorders such as adrenal insufficiency and endogenous growth hormone deficiency have also been documented.

Case presentation

We present a patient with Costello syndrome who has been successfully treated with recombinant hum

SUBMITTER: Blachowska E 

PROVIDER: S-EPMC4729164 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature