P-030 ELLIS VAN CREVELED SYNDROME (CHONDROECTODERMAL DYSPLASIA). RARE CASE IN IRAQ

Abstract Introduction Ellis Van Creveled Syndrome is a rare form of skeletal dysplasia. It had not been reported in Iraq previously. EVC syndrome is a Chondroectodermal Dysplasia which is a rare phenotype of skeletal dysplasia. It’s associated with polydactly and structural heart disease. The syndrome is caused by mutation of EVC1 and EVC2 genes. Clinical Case A 30-year-old lady presented to endocrinology unit as a case of marked short stature (dwarf). Her family was concerned about her short height. They reported her complain of severe shortness of breath, cynosis and failure to thrive when she was 8 years of age. She was diagnosed as a case of single common atrium which obligated the corrective cardiac surgery and pacemaker implantation at that time. On examination, she had oral features of supernumerary, dysplastic and atrophic teeth. Irregular teeth spacing with enamel hypoplasia. (figure 1). Skeletal features were markedly short (dwarf), Short limb (mesomelia), cubits valgus of upper limb, bilateral polydactyly (both hands &feet), dysplastic & atrophic nails. Limited chest contour. Figures (2,3,4,5). Regarding cardiovascular features she had common atrium, mild left and right AV valve insufficiency with pulmonary valve stenosis with implantable cardiac pacemaker There are not any skin lesions found, and the patient had normal cognitive, intellectual and behavioral performance. Her menstrual cycle was regular. Lab studies show normal thyroid function test, PTH level, IGF1 and Growth hormone levels, renal and liver function tests. Chest radiography revealed cardiomegaly with connected cardiac pacemaker.Figure 1:Features of EVC caseatrophic, supernumary, hypoplastic widely spaced teeth, Markedly short (dwarf) 30 years old lady, polydactyly of hand fingers with hypoplastic nails, polydactyly of feet toes, cubitus valgus of mesomelic forearm, hest X-ray with Cardiomegaly and implanted pacemaker