North KN, Hoppel CL, De Girolami U, Kozakewich HPW, Korson MS (1995). Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J Pediatr 127:414–420. Pierce MR, Pridjian G, Morrison S, Pickoff AS (1999). Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features. Clin Pediatr (Phila) 38:13–20. Wieser T (2004). Carnitine palmitoyltransferase II deficiency. Gene Reviews- NCBI Bookshelf. Available at http://www.ncbi.nlm.nih.gov/bookshelf [Accessed 29 January 2011]. Yang B-Z, Ding J-H, Roe D, Dewese T, Day DW, Roe CR (1998). A novel mutation identified in carnitine palmitoyltransferase II deficiency. Mol Genet Metab 63:110–115. The association of polythelia with segmentation defects of the vertebrae Leyla Akin a , Mustafa Ali Akin b , Dilek Sarici b , Ali Yikilmaz c , Bedia Efendioglu b and Selim Kurtoglu a , Departments of a Pediatric Endocrinology, b Neonatology and c Pediatric Radiology, Faculty of Medicine, Erciyes University, Kayseri, Turkey Correspondence to Leyla Akin, MD, Department of Pediatric Endocrinology, Faculty of Medicine, Erciyes University, Kayseri 38039, Turkey Tel: + 90 352 437 4937; fax: + 90 352 437 5825; e-mail: leylabakin@gmail.com Systems of nomenclature for describing and reporting congenital segmentation defects of the vertebrae (SDV) are confusing and are applied inconsistently (Offiah et al., 2010). Jarcho and Levin (1938) described a syndrome affecting individuals with shortening of the neck and trunk associated with multiple vertebral and rib malformations. Since then, the terms Jarcho–Levin syndrome, spondylo- costal dysostosis (SCD), and spondylothoracic dysplasia (STD) have been used interchangeably and indiscrimi- nately for a wide range of phenotypes. Recently, a multi- disciplinary group of the International Consortium for Vertebral Anomalies and Scoliosis has developed a new classification system for SDV (Offiah et al., 2010). A 12-day-old girl presented with an accessory nipple on the right. She was born to nonconsanguineous parents with a birth weight of 3300 g after an uneventful pregnancy. The mother was 42 years old and had no toxic exposures during pregnancy. There was no family history of short stature nor spinal abnormality. There were three healthy siblings (two were female and one was male), and there was no history of fetal losses. Physical examination revealed a short neck and trunk with limbs that appeared relatively long, a low posterior hairline, and an asymmetric thorax. The length was 48 cm (10–25th percentile), weight was 3260 g (25–50th percentile), and head circumference was 34 cm (25–50th percentile). Polythelia was noticed on the right milk line (Figs 1 and 2). Radiological examination showed SDV affecting some midthoracic and lower thoracic segments and causing left thoracic convex scoliosis. The right third and fourth ribs were absent and the right fifth and sixth ribs were dysplastic and partially fused. Partial fusion was present between the left ninth and the 11th ribs, which were originating from the transverse processes of the ninth rib (Fig. 2). The renal ultrasound scan and ECG were normal. At the age of 12 months, the length was 68 cm (10–25th percentile), weight 7600 g (third to 10th percentile), sitting height 34 cm, sitting height/length ratio 0.52 (N: 0.62), and arm span 68 cm. The thoracic asymmetry and mild scoliosis had not progressed (Fig. 1a–c). She had no history of frequent infections nor any pulmonary problems during follow-up. Her neurodevelopment was appropriate for her age. SDV can be caused by either syndromic or nonsyndromic disorders. In nonsyndromic disorders, the malformation is Fig. 1 Photographs of the patient indicating a short neck (a), polythelia (b), and a low posterior hair line and an asymmetric thorax (c). Letters to the Editor 181 Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.