Table of Contents  
LETTER TO THE EDITOR
Year : 2014  |  Volume : 7  |  Issue : 3  |  Page : 408-409  

Jarcho-Levin syndrome with Sprengel's deformity: A rare entity


1 Department of Pediatrics, Vardhaman Mahavir Medical College & Safdarjung Hospital, New Delhi, India
2 Department of Radiodiagnosis, Vardhaman Mahavir Medical College & Safdarjung Hospital, New Delhi, India

Date of Web Publication18-Mar-2014

Correspondence Address:
Aliza Mittal
Room No. 57, Resident Doctors Hostel, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi - 110 029
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-2870.129017

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How to cite this article:
Mittal A, Sureka B, Mittal MK, Aggarwal KC. Jarcho-Levin syndrome with Sprengel's deformity: A rare entity. Med J DY Patil Univ 2014;7:408-9

How to cite this URL:
Mittal A, Sureka B, Mittal MK, Aggarwal KC. Jarcho-Levin syndrome with Sprengel's deformity: A rare entity. Med J DY Patil Univ [serial online] 2014 [cited 2021 Jan 19];7:408-9. Available from: https://www.mjdrdypu.org/text.asp?2014/7/3/408/129017

Sir,

Jarcho-Levin syndrome is a rare recessive genetic disorder characterized by multiple vertebral segmentation defects and rib anomalies. [1]

We would like to highlight that it is rarely associated with Sprengel's deformity, which was seen in our case. The only previously described similar report is by Vijayan et al. in a 4-year-old child who presented with similar malformations. We therefore present the second such report with the classical clinical and imaging findings.

A 7-year-old boy presented with scoliosis, elevated left shoulder and deformity of the chest wall [Figure 1]. The radiograph of the child revealed multiple vertebral segmentation anomalies, deformed and fused ribs on the left side and abnormally high scapula on the left side - Sprengel's deformity of the scapula [Figure 2]. There were no associated neurological deficits. Magnetic resonance imaging confirmed the above findings. There was no occult spinal dysraphism. A diagnosis of Jarcho-Levin syndrome with Sprengel's deformity was considered.
Figure 1: Clinical photograph showing elevated left shoulder with deformity of the spine and upper back

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Figure 2: (a) Chest X-ray showing elevated left scapula (white arrow), deformed and fused left sided ribs (black arrow) with multiple vertebral anomalies (b) volume rendered 3D computed tomography images
showing vertebral segmentation anomalies (arrowhead) and fused, deformed posterior ribs (black arrow)


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This entity has been described as two phenotypes in the existing literature. (1) Spondylothoracic dysostosis characterized by "crab-like or fan-like" deformities of the ribs, greater neural tube defects (NTDs). Intrinsic rib abnormalities in this subtype are limited to a decrease in number and posterior fusion. They have a higher mortality rate and inherit the disorder in an autosomal recessive manner. (2) Spondylocostal dysostosis (SCDO) characterized by normal life expectancy, short trunk, short neck and non-progressive mild scoliosis. They present multiple vertebral anomalies at different levels of the spine, including "butterfly vertebrae," hemi-vertebrae and fused hypoplastic vertebrae. Patients with this subtype have vertebral anomalies associated with marked intrinsic rib abnormalities such as absent ribs, abnormal orientation, irregularity of shape and size, bifurcation, broadening, fusion, etc. They are also less likely to have associated NTDs and inherit the disorder in either autosomal recessive or autosomal dominant manner. [2]

Genetic analysis and identification of the two mutant alleles in any one of the four genes (DLL3, MESP2, LFNG and HES7) known to be associated with autosomal recessive SCDO can confirm the diagnosis. Growth, development, respiratory function and spinal curvature should be monitored. [1]

The vertebral anomalies seen are - hemi-vertebrae, absent vertebrae, fused vertebrae, block/wedge vertebrae, sickle shaped vertebrae due to segmentation and formation defects (pebble-beach appearance). The costal defects such as "crab-like" or "fan-like" appearance of the thorax is due to crowded ribs, posterior fusion of the ribs and absent, irregular or bifid ribs.

The anomalies associated with Jarcho-Levin syndrome are minor facial dysmorphism, urogenital and anal anomalies, complex congenital heart disease, limb and digit anomalies etc. [3]

NTDs such as spina bifida, meningocele, myelomeningocele, lipomyelomeningocele and diastematomyelia have been reported to be associated with this syndrome. [4]

Our case would thus fall into the phenotype of the milder variant SCDO along with associated Sprengel's deformity.

These disorders can be diagnosed antenatally by high-resolution fetal scans at 18-23 weeks of gestation. A correct diagnosis made in a previously affected child can help in genetic counseling of the couple at risk and in establishing the diagnosis prenatally in a subsequent pregnancy. [2]

 
  References Top

1.Vijayan S, Shah H. Spondylo-costal dysostosis with Sprengel's shoulder - Report of a new association with Jarcho-Levin syndrome. Kerala J Orthop 2012;25:103-4.  Back to cited text no. 1
    
2.Suri M, Madhulika K, Pemde H, Gupta AK, Verma IC. Jarcho-Levin syndrome. Indian Pediatr 1994;31:1119-22.  Back to cited text no. 2
    
3.Kulkarni ML, Navaz SR, Vani HN, Manjunath KS, Matani D. Jarcho-Levin syndrome. Indian J Pediatr 2006;73:245-7.  Back to cited text no. 3
    
4.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.  Back to cited text no. 4
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