Ellisvan Creveld syndrome report of two cases

Authors: Sumit Mehndiratta Amita Tyagi Veena Devgan

Publish Date: 2011/01/05

Volume: 7, Issue: 4, Pages: 368-370

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Abstract

Ellisvan 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 syndromeA 2monthold 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 findingsScreening 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 cardiorespiratory problems The parents were extensively counseled for regular followupThe 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

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