Table of Contents

2017 Month : April Volume : 3 Issue : 1 Page : 11-13

A RARE CASE OF JARCHO-LEVIN SYNDROME.

Sherin Naseer1, Karthik R2, Adarsh E3

Corresponding Author:
Dr. Adarsh E,
#150/C, 2nd Cross, BEML Layout,
Basaveshwaranagar, Bangalore.
E-mail: dradarshe@gmail.com

ABSTRACT

BACKGROUND

Jarcho-Levin syndrome is a rare genetic disorder characterised by distinctive malformation of the bones of the vertebrae and the ribs, respiratory insufficiency and other abnormalities. They are prone to repeated respiratory infections that result in life threatening complications.(1) It may occur as an isolated entity or may coexist with 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, congenital diaphragmatic hernia  and chromosomal anomalies such as Trisomy 21, 18 or 13.(2) Infants born with Jarcho-Levin Syndrome have short necks, limited neck motion due to abnormalities of the cervical vertebrae and short stature. Here we are reporting the case of a 1-year-6-month-old child with Jarcho-Levin Syndrome with vertebral and rib anomalies and no other associated anomalies.

KEYWORDS

Hypoplasia, Jarcho-Levin Syndrome, Dysostosis.

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