ESPE Abstracts

Introduction: Ellis-Van Creveld syndrome is a syndrome progressing with postaxial polydactyly, short extremities, short height, dystrophic and/or hypoplastic nails, dental and oral anomalies, congenital heart disease and radiological abnormalities. Variations in several genes like EVC, EVC2, DYNC2H1, DYNC2LI1, GLI, SMO, PRKACA and PRKACB are considered responsible for the etiology of the syndrome.

Case: An 11 year and 5 month-old male patient attended due to short height. History was birth at 38 weeks, weighing 2920 g, operation at 2 years due to ASD, and operation at 2.5 years due to postaxial polydactyly of all extremities. No features in family history. Physical examination: weight 33.6 kg (25-50p), height 134.5 cm (3-10 p), testis volume 2 cc/2cc, pubic hair Tanner stage 1, single lower incisor anterior tooth was detected. Target height 170.2 cm (25-50p), with predicted height 164.4 cm according to bone age. Laboratory investigation: IGF-1: 228 ng/mL (-1-0 sds), peak growth hormone response to growth hormone stimulation test 4.4 ng/mL and 6.5 ng/mL. Bone radiography found metacarpal heads wider than normal in both hands and bone structures from old polydactyly between second and third metatarsal bones on both feet. During follow-up, height growth rate was 3 cm/year. Ellis-Van Creveld syndrome was diagnosed by identifying homozygote c.175-2A>G variant in the splice acceptor region of the EVC gene with genetic analysis. With low height growth rate, the case began growth hormone at 12 years and 9 months of age.

Result: Ellis-Van Creveld syndrome is associated with ectodermal dysplasia, chondrodysplasia, polydactyly and congenital cardiopathy. In the skeletal system, postaxial polydactyly of hands and/or feet, brachydactyly, short extremities, narrow thorax or short ribs are observed. Congenital heart defect is present in 60-70% of patients; most have atrial septal defect or atrioventricular septal defect. Dental anomalies, dysplastic nails and hair abnormalities may accompany the syndrome. Short height is observed. In the literature, there are cases associated with growth hormone and reporting benefit from short-term growth hormone treatment. In cases attending with short height, cardiac defects, dental findings and polydactyly presence should be assessed and Ellis-Van Creveld syndrome should be considered for these cases.