Background: Ellis van Creveld syndrome (EVC) (chondroectodermal dysplasia) is a rare, multisystem disorder. It probably affects only around 1 in every 150,000 individuals. It is characterized by a long, narrow trunk and shortened arms and legs; extra fingers (postaxial polydactyly), and abnormalities of the oral region and teeth. In infants, non-bony manifestations, particularly congenital heart defects, may be health or life-threatening.
Case presentation: This boy was born at term by lower segment CS due to transverse presentation. His length =41 cm and weight =2.2 kg, Hc=33 cm. He had features of EVC syndrome including: rhizomalic short stature, post-axial polydactyly in hands and feet, multiple frenulae in the mouth, hypoplastic nails, congenital heart disease (small PDA), long filtrum, and thick upper lips.
Growth assessment: His growth chart showed an initial spontaneous catch up during the first year of life which was followed by progressive deceleration of growth till the age of 6 years (htSDS =−3.6) with normal BMI (=16 kg/m2). Investigation showed: normal echocardiographic evaluation, normal renal and hepatic functions, and normal hemogram. Hormonal evaluation showed: normal thyroid function, IGF-I=78 ng/ml (IGFI SDS =−1.7) and normal 8 AM cortisol concentrations. Clonidine stimulation test for GH release showed a peak of 18 ug/l. Human GH therapy was started and improved his linear growth (0.05 mg/kg) (HtSDS) increased from −3.6 to −2.2) after two years of treatment. This is the first case of EVC with normal GH response to provocation that responded well to GH therapy. Previously, the association of growth hormone deficiency and ECV has been reported in one patient and, in this case, the growth hormone treatment had a favorable effect on growth.
Conclusion: It appears that growth hormone therapy improves linear growth in GH sufficient patients with EVC syndrome.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology