Ellis-van Creveld syndrome: report of two cases.

BACKGROUND: Ellis-van Creveld syndrome (EVC syndrome, MIM 225500) or chondroectodermal dysplasia is a rare, autosomal recessive disorder. This syndrome is characterized by a tetrad of chondrodystrophy, post axial polydactyly, and hidrotic ectodermal dysplasia, mostly involving teeth and nails and a high frequency of congenital cardiac anomalies, most frequently a common atrium. The genetic basis of this disorder has been identified as mutations in the Evc and Evc2 genes. We present a report of two affected siblings with features consistent with those of the syndrome.
METHODS: A 2-month-old child with features of lower respiratory tract infection was admitted to the pediatric emergency department. Detailed examination revealed skeletal anomalies such as limb shortening and polydactyly in both hands. On cardiac evaluation, ventricular septal defect was found. There were no neonatal teeth. A diagnosis of EVC syndrome was made based on the findings.
RESULTS: Screening of family members revealed that the elder sibling had features consistent with those of EVC syndrome. He was 4 years old, yet undiagnosed with short bones, polydactyly, partial anodontia and ventricular septal defect. The third child and the parents were unaffected. The treatment of this disorder is primarily supportive particularly for associated cardio-respiratory problems. The parents were extensively counseled for regular follow-up.
CONCLUSIONS: The diagnosis of this syndrome is based on clinical grounds supported by radiological evaluation. Prenatal diagnosis is possible by ultrasonography and genetic testing. Genetic counseling is required to make the parents aware of the risk of recurrences.