Karaağaç AT, Yildirim AI (2016) A Type 3 Klippel Feil Syndrome Case With Atrial Septal Defect and Atrial Septal Aneurysm. Int J Pediat Health Care Adv. 3(1), 13-16. 13 OPEN ACCESS http://scidoc.org/IJPA.php International Journal of Pediatric Health Care & Advancements (IJPA) ISSN 2572-7354 A Type 3 Klippel Feil Syndrome Case With Atrial Septal Defect and Atrial Septal Aneurysm Case Study Karaağaç AT * , Yildirim AI Kartal Koşuyolu Research and Training Hospital, Pediatry, Istanbul, Turkey. Introduction KFS, irst described by Maurice Klippel and Andre Feil in 1912, is believed to result from faulty segmentation of the long axis of developing embryo dring the second to eighth weeks of gestation [1]. Besides its classical triad, a variety of clinical symptoms such as scoliosis, rib anomalies, raised scapula (Sprengel’s deformity), facial asymmetry, cardiac, auditory or urinary anomalies may accompany KFS [1, 2]. Its incidence was reported as 0.2-0.7 cases per 1000 people [3]. Case Presentation Ş.Y, 7-year-old female was referred to our hospital for cardiac surgery. She was born with a ceserian section, 2700 gr in weight and 46 cm. in height. She remained in the neonatal intensive care unit for 10 days due to the respiratory dificulty. Her mother and father were both 28 years old and 3 rd degree relatives. They had no physical abnormality or history of any chronical illness. The gestational follow up of the mother was normal. She had no history of cigarette smoking, drug or alcohol use. On the physical examination in our inpatient clinic, Ş.Y had facial asymmetry, prominent forehead and occiput, low posterior hairline, short tilted neck, limited neck motion, scoliosis, kyphosis and a raised scapula (Figure 1). Her weight was 15 kg(<3 rd percentile) and height was 105 cm. (3 rd percentile). There was a concavity on the left thoracic region of her chest (Figure 2). Her respiratory sounds were normal and cardiac auscultation revealed 2/6 systolic murmur on the pulmonic area with 86 heart beats per minute. Her oxygen saturation was 96% in the room air. The rest of the systemic examination was normal. On her laboratory test results there was no abnormality except for a moderate degree of anemia with a hemoglobin level of 9 gr/dl and hematocrit (Htc) %26. Her 3 dimensional cervical computed tomography (CT) showed multiple hemivertebrae anomalies, fusion of cervical vertebrae and disruption in the atlantoaxial junction (Figure 3). Spinal magnetic resonance imaging (MRI) showed multiple fusion anomalies in the cervical and upper thoracic vertebrae (Figure 4). The plain radiography of the chest revealed rib fusion anomaly on the left thoracic region (Figure 5). Echocardiographic examination demonstrated atrial septal defect, atrial septal aneurysm, tricuspid regurgitation and dilatation in the right heart chambers. Abdominal ultrasonography was normal except for a mild hepatomegaly. Fluorescence in situ hybridization (FISH) analysis performed by D22S75 (Aquarius/Cytocell) probe showed no chromosome abnormality in our case and her parents and the karyotype analysis was normal (46,XX). Abstract Klippel Feil syndrome (KFS) is a rare congenital disorder characterized by short neck due to abnormal fusion of cervical vertebrae, limited head and neck motion and low posterior hairline. We present a rare case of type 3 KFS with the fusion of cervical and thoracic vertebrae, cervical hemivertebrae anomaly, Sprengel’s deformity, rib fusion anomaly, accompanied by atrial septal defect/septal aneurysm, thereby reviewing the literature about this syndrome. Keywords: Cervical Vertebrae; Fusion Anomaly; Cardiac Defect; Klippel-Feil Syndrome. *Corresponding Author: Aysu Türkmen Karaağaç, Kartal Koşuyolu Research and Training Hospital, Denizer Cad, Cevizli kavşağı, No:2, 34846, Kartal, Istanbul, Turkey. Tel: 0(216)5001500-1101 E-mail: aysukaraagac@gmail.com Received: January 20, 2016 Accepted: January 20, 2016 Published: January 22, 2016 Citation: Karaağaç AT, Yildirim AI (2016) A Type 3 Klippel Feil Syndrome Case With Atrial Septal Defect and Atrial Septal Aneurysm. Int J Pediat Health Care Adv. 3(1), 13-16. doi: http://dx.doi.org/10.19070/2572-7354-160005 Copyright: Karaağaç AT © 2016. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.