title: A neonate with ectodermal dysplasia ectrodactyly clefting syndrome and ventricular septal defect.
abstract: A 37-week gestation male boy was born to a gravida seven para six mother by spontaneous vertex delivery at home. The baby cried at birth. On day 3 of life, he was admitted for respiratory distress. Physical examination revealed ectrodactyly, thin dry skin, anomalous tear duct with cardiomegaly. X-ray revealed absent radii, cardiomegaly and hemivertebra at L1. Echocardiogram revealed perimembranous type of ventricular septal defect. A diagnosis of Ectodermal Dysplasia Ectrodactyly Clefting Syndrome with ventricular septal defect was made. He was managed conservatively in the nursery. However, he expired on day 27 of life following short spell of fever apnoeic episode due to neonatal sepsis.
authors.affiliation: Department of Paediatrics, Hospital Universiti Sains Malaysia, Kubang Kerian, Kelantan.
authors.forename: S P
authors.initials: SP
authors.lastname: Ram
authors.forename: A R
authors.initials: AR
authors.lastname: Noor
authors.forename: W A
authors.initials: WA
authors.lastname: Ariffin
authors.forename: N A
authors.initials: NA
authors.lastname: Ariffin
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D004480:Ectromelia / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011884:Radius / Q000002:abnormalities; D013577:Syndrome