Case Report: PDF OnlyBilateral Diaphragmatic Defect and Associated Multiple AnomaliesGuven, Leyla Karadeniza, *; Guven, Sirina; Atay, Envera; Ovali, Fahria; Celayir, Aysenurb Author Information aDivision of Neonatology, Department of Pediatrics, Zeynep Kamil Maternity and Children's Research Hospital, Istanbul, Turkey bDepartment of Pediatric Surgery, Zeynep Kamil Maternity and Children's Research Hospital, Istanbul, Turkey *Correspondence to: Dr Leyla Karadeniz, NICU, Zeynep Kamil Maternity and Children's Research Hospital, 34668, Istanbul, Turkey E-mail: [email protected] Received: May 23, 2008; • Accepted: November 6, 2008. Journal of the Chinese Medical Association: March 2009 - Volume 72 - Issue 3 - p 163-165 doi: 10.1016/S1726-4901(09)70045-0 Metrics Abstract Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral agenesis of the diaphragm is a very rare congenital malformation and frequently associated with other major anomalies. We report a case of bilateral diaphragmatic agenesis associated with major congenital anomalies. A 2,240-g male infant was born at 35 weeks of gestation to a 34-year-old mother with a history of minimal prenatal care. Polyhydramnios was reported on prenatal level 1 scan. The patient experienced early respiratory distress requiring intubation. Apgar scores were 2/1/1 at 1, 5 and 20 minutes, respectively, and efforts to resuscitate him were unsuccessful. He died at 2 hours of age. Autopsy revealed bilateral diaphragmatic agenesis associated with right pulmonary hypoplasia, left pulmonary agenesis, multiple cardiac abnormalities and gallbladder agenesis. Cytogenetic studies showed normal male karyotype. Bilateral agenesis of the diaphragm is a life-threatening malformation. Survival of these infants often depends on cardiopulmonary function. Bilateral agenesis of the diaphragm associated with gallbladder and unilateral pulmonary agenesis is a rare entity, and its clinical significance needs further investigation. © 2009 by Lippincott Williams & Wilkins, Inc.