Balkan Journal of Medical Genetics

SIRENOMELIA ASSOCIATED WITH HYPOPLASTIC LEFT HEART IN A NEWBORN
Turgut H1, Ozdemir R1,*, Gokce IK1, Karakurt C2, Karadag A1 Turgut H1, Ozdemir R1,*, Gokce IK1, Karakurt C2, Karadag A1
*Corresponding Author: Ramazan Ozdemir, M.D., Division of Neonatology, Department of Pediatrics, Inonu University School of Medicine, Turgut Ozal Medical Center, Campus Street, 44280, Malatya, Turkey. Tel: +90-422-341-0660-5310. Fax: +90-422-341-0736. E-mail: ramazanoz@yahoo.com.tr
page: 91

INTRODUCTION

Sirenomelia is a rare congenital anomaly, first described by Rocheus in 1542 and Palfyn in 1553 [1]. Its prevalence has been reported to be 1/600,000-1,000,000 [2]. Although the mechanism underlying sirenomelia is still unknown, maternal diabetes mellitus, genetic predisposition, vascular hypoperfusion and exposure to teratogenic agents are among probable factors [3,4]. Sirenomelia is characterized by fusion in extremities, hypoplasia or aplasia or genital system, renal agenesis and lack of bladder, single umbilical artery, vertebral defects and other skeletal system abnormalities [2]. The most common central nervous system anomalies reported in the literature are alobar holoprosocephalia and lumbar meningomyelocele. Most of the gastrointestinal system anomalies described are rectal atresia, blind end colon, imperforate anus, esophagus atresia and omphalocele. Less commonly, pulmonary defects such as lung hypoplasia, diaphragmatic hernia and cardiac defects have been reported [3-5]. Classification of syrenomelia in seven types according to Stocker and Heifetz [6] are as follows: type I, all thigh and leg bones are present; type II, single fibula; type III, absent fibula; type IV, partially fused femurs, fused fibulae; type V, partially fused femurs; type VI single femur, single tibia; type VII, single femur, absent tibia. Sirenomelia has been reported to be associated with heart defects such as truncus arteriosus, ventricular septal defect and patent ductus arteriosus [7,8]. The aim of this study was to report a case of syrenomelia type V associated with hypoplastic left heart, which has not been reported before.

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