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


  • Malika Haque The Ohio State University, Nationwide Children's Hospital Columbus-Ohio 43205



Ellis-van Creveld syndrome, Autosomal recessive inheritance, Medical ethics, Islamic jurisprudence


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.


Author Biography

Malika Haque, The Ohio State University, Nationwide Children's Hospital Columbus-Ohio 43205


Clinical Professor Of Pediatrics, College Of Medicine, The Ohio State University.

Pediatrician , Nationwide Children's Hospital, Columbus-Ohio- 43205.

Medical Director Muslim Clinic Of OHIO/Noor Community Clinic , at The Ohio State University, Columbus -Ohio







Case Reports