Perinatology.  2018 Dec;29(4):185-188. 10.14734/PN.2018.29.4.185.

Prenatally Diagnosed and Surviving Patient with Jarcho-Levin Syndrome: Case Report with Literature Review

Affiliations
  • 1Department of Pediatrics, Chung-Ang University College of Medicine, Seoul, Korea. piena81@caumc.or.kr
  • 2Department of Obstetrics and Gynecology, Chung-Ang University College of Medicine, Seoul, Korea.

Abstract

Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis, and meningomyelocele. We describe a spondylocostal dysplasia form of Jarcho-Levin syndrome that was prenatally diagnosed at 11 weeks of gestation and surviving. Although the patient had sporadic-type Jarcho-Levin syndrome, with normal karyotype and no family history of disease, the assessment of inheritance patterns and genetic counseling for the parents was important to inform them about the potential risks.

Keyword

Jarcho-Levin syndrome; Prenatal diagnosis; Scoliosis; Ultrasonography

MeSH Terms

Arnold-Chiari Malformation
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Counseling
Humans
Hydrocephalus
Inheritance Patterns
Karyotype
Meningomyelocele
Neural Tube Defects
Parents
Pregnancy
Prenatal Diagnosis
Scoliosis
Ultrasonography

Figure

  • Fig. 1 Three-dimensional posterior image of the affected fetus at 14 weeks of gestation. (A) Kyphoscoliosis of the spine. (B) Absence of the T10 and T11 ribs in the left lateral thoracic cage.

  • Fig. 2 Gross and computed tomography (CT) images of the infant. (A) The infant has a short neck, accessory nipples, and abnormal rib cage on the left side. (B) Three-dimensional spinal CT shows left T1, T2, and T10 hemivertebrae and a fusion anomaly in T6 and T7, with lateral wedging and scoliosis of the thoracic spine with convexity to the right. (C) Chest anteroposterior image shows dextrocardia and abnormal rib cage on the left side.


Reference

1). Jarcho S. Hereditary malformation of the vertebral bodies. Bull Johns Hopkins Hosp. 1938. 62:216–26.
2). Park Y., Gong G., Choe G., Yu E., Kim KS., Lee I. Jarcho-levin syndrome—a report of an autopsy case with cytogenetic analysis. J Korean Med Sci. 1993. 8:471–5.
3). Lee WJ., Lee BK., Cho YS., Park MH., Hoon RJ., Oh KY, et al. Prenatal diagnosis of spondylothoracic dysplasia (Jarcho-levin syndrome) by ultrasound. Korean J Obstet Gynecol. 2002. 45:2075–80.
4). Byun SY., Sung MH., Choi JM., Kim TH., Hwang KG., Jung JA. A case of Jarcho-levin syndrome with intrathoracic kidney. Korean J Pediatr. 2004. 47:1225–7.
5). Park WH., Choi SO., Lee HJ. Jarcho-levin syndrome associated with imperforate anus and thoracoabdominal wall hernia. J Korean Surg Soc. 2007. 73:188–90.
6). Kim JY., Hwang SJ., Lee SM., Oh JW., Yum MK., Kim CR. A case of Jarcho-levin syndrome with fusion of both kidneys in a newborn infant. J Korean Soc Neonatol. 2008. 15:84–8.
7). Kauffmann E., Roman H., Barau G., Dumas H., Laffitte A., Fourmaintraux A, et al. Case report: a prenatal case of Jarcho-levin syndrome diagnosed during the first trimester of pregnancy. Prenat Diagn. 2003. 23:163–5.
Article
8). Dane C., Yayla M., Dane B. Prenatal diagnosis of Jarcho-levin syndrome in the first trimester. Gynecol Obstet Invest. 2007. 63:200–2.
Article
9). Eliyahu S., Weiner E., Lahav D., Shalev E. Early sonographic diagnosis of Jarcho-levin syndrome: a prospective screening program in one family. Ultrasound Obstet Gynecol. 1997. 9:314–8.
Article
10). Hull AD., James G., Pretorius DH. Detection of Jarcho-levin syndrome at 12 weeks' gestation by nuchal translucency screening and three-dimensional ultrasound. Prenat Diagn. 2001. 21:390–4.
Article
11). Kansal R., Mahore A., Kukreja S. Jarcho-levin syndrome with diastematomyelia: a case report and review of literature. J Pediatr Neurosci. 2011. 6:141–3.
12). Kurup PM., Tanigasalam V., Bhat BV. Spondylocostal dysostosis (Jarcho levin syndrome). Indian J Pediatr. 2018. 85:486.
Article
13). Hackshaw A., Rodeck C., Boniface S. Maternal smoking in pregnancy and birth defects: a systematic review based on 173 687 malformed cases and 11.7 million controls. Hum Reprod Update. 2011. 17:589–604.
Article
14). Solomon L., Jimenez RB., Reiner L. Spondylothoracic dysostosis: report of two cases and review of the literature. Arch Pathol Lab Med. 1978. 102:201–5.
15). Berdon WE., Lampl BS., Cornier AS., Ramirez N., Turnpenny PD., Vitale MG, et al. Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-levin syndrome). Pediatr Radiol. 2011. 41:384–8.
Article
16). Cornier AS., Ramírez N., Arroyo S., Acevedo J., García L., Carlo S, et al. Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases. Am J Med Genet A. 2004. 128A:120–6.
Article
17). Rai AS., Taylor TK., Smith GH., Cumming RG., Plunkett-Cole M. Congenital abnormalities of the urogenital tract in association with congenital vertebral malformations. J Bone Joint Sur Br. 2002. 84:891–5.
Article
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