International Journal of Anatomy and Research

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Type of Article: Original Research

Year: 2016 | Volume 4 | Issue 1 | Page No. 1825-1827

Date of Publication: 31-01-2016



A.K.Manicka vasuki.

Assistant professor, Department of anatomy, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, India.

Address: Dr.A.K.Manicka vasuki, Assistant Professor, Department of Anatomy, PSG Institute of Medical Sciences and Research, Coimbatore 641004, Tamil Nadu, India.


Jarcho-Levin syndrome or Spondylocostal Dysostosis is characterized by Short neck and stature, vertebra-costal segmentation defects, pulmonary hypoplasia, congenital diaphragmatic hernia and renal agenesis.During dissection of 23 weeks old female fetus in the department of Anatomy, we observed Short neck, pulmonary hypoplasia, left diaphragmatic hernia with right renal agenesis. X-Ray showed hemivertebra in the lower two thoracic vertebra. This is an autosomal recessive disorder and hence the risk of such anomalies in the subsequent pregnancy is also increased. Identification of chromosomal abnormality and genetic counseling is necessary to avoid recurrence of the condition and its complications in future pregnancies.

Congenital diaphragmatic hernias occur in 1/2000 to 1/4000 births. They are relatively common with a majority of them belongs to Bochdalek variety, hernia occurring posterolaterally thro’ foramen of Bochdalek. This is more frequent on the left side (85 – 90% of cases). In the newborn period, it may present with severe respiratory distress. Eventhough it occur as a isolated entity, it is important to look for other congenital malformations like cardiac anomalies, lung agenesis or hypoplasia, renal agenesis, hydronephrosis, vertebral anomalies like hemivertebra, fused vertebra, lumbar lordosis, kyphoscoliosis, genital anomalies, cleft lip and palate and chromosomal anomalies such as Trisomy 21,18 or13 may coexist with Congenital diaphragmatic hernia. Familial inheritance is reported in 2%of the cases.
KEY WORDS: Costovertebral,diaphragmatic hernia, fetus, renal agenesis.


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A.K.Manicka vasuki. JARCHO-LEVIN SYNDROME: A CASE REPORT. Int J Anat Res 2016;4(1):1825-1827. DOI: 10.16965/ijar.2015.344




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