Endocrine Abstracts

Introduction: Velocardiofacial syndrome (VCFS) also known as DiGeorge or chonotruncal anomaly face syndrome, is a rare genetic disease caused by a microdeletion in the long arm of chromosome 22, having a prevalence of approximately 1:7000 to 1:4000. VCFS has a wide spectrum of more than 200 physical manifestations including: cleft palate, heart and facial abnormalities, eye pathology, problems with feeding, including nasal regurgitation, middle-ear infections (otitis media), low calcium due to hypoparathyroidism, short stature.

Case report: We present a 9 year old boy born from unrelated parents, referred to the Clinic of Endocrinology for his short stature. On clinical examination his height was of 114 cm (−3 S.D.), and his weight was of 16.5 kg (−4.3 S.D.). Dimorphic features included: elongated face, almond shaped eyes; malar flatness; normally formed but protuberant ears with attached lobes, low-set ears, mild micrognathia. The suspicion of VCFS was revealed and a blood sample was taken in order to prove 22q11 microdeletion. Hormonal investigations showed euthyroid status, low normal IGF1 level and low basal GH, with subnormal answers by clonidine and arginin tests (peak GH was beneath 10 ng/ml). These data and delayed bone age (3 years), represented arguments for initiating therapy with recombinant GH.

We found other modifications related to the VCFS.Heart ultrasound revealed stage III mitral insufficiency with anterior mitral valve prolapse, aortic bicuspidy with stage I aortic insuffiiciency, ascendent aortic dilatation.

Discussions: Short stature is a frequent finding in VCFS and has been reported to occur in 36 to 67% of these patients, postulated to be due to intrauterine growth retardation, feeding difficulties and congenital heart defects. The incidence of GH deficiency in this particular genetic context is not known.