Case Presentation of Ellis-van Creveld Syndrome and the Dilemmas and Implications of Prenatal Diagnosis and Management of a Congenitally Malformed Baby

Abstract

Characteristic features of Ellis-van Creveld syndrome, the dilemmas in its prenatal diagnosis, and the implications in the management of a congenitally malformed baby born to Muslim parents who were second cousins, are described. Following an ultrasound during the third trimester, the parents were told that the baby had a severe congenital malformation called short rib poldydactyly syndrome and would die soon after birth. However, the baby continued to live showing improvement without any significant medical interventions, and the diagnosis of Ellis-van Creveld syndrome was considered in the first week of life when first examined by the primary care physician. A diagnostic workup later confirmed the diagnosis. In the fourth week of life, deterioration set in. Despite all tbe efforts and help from modem medical technology. the baby did not survive and died around nine weeks of age. Both parents and the physicians involved in the care of this infant were faced with difficult dilemmas and decisions in the management of this congenitally malformed baby.

DOI: http://dx.doi.org/10.5915/30-3-9828