Jarcho-Levin Syndrome - Indian Pediatrics

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O'Reilly RJ, Brochstein J, Dinsmore,. Kirkpatrick D. Marrow transplantations for congenital disorders. Semin Hematol. 1984,21:188-221. 10. Prenatal diagnosis ...



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Weening RS, Schoorpel D, Roos D, et al. Effect of ascorbate on abnormal neutrophil, platelet and lymphocyte function in a patient with Chediak-Higashi Syndrome. Blood 1981, 57: 856-865.

Jarcho-Levin Syndrome

Mohnish Suri Madhulika H. Pemde A.K. Gupta I.C. Verma

9. O'Reilly RJ, Brochstein J, Dinsmore, Kirkpatrick D. Marrow transplantations for congenital disorders. Semin Hematol 1984,21:188-221. 10. Prenatal diagnosis of CHS in the cat by evaluation and cultured chronic villi. AmerMed Genet 1991, 40: 311-315.

literature(2,3). Recently, this syndrome has been divided into two major subtypes: spondylothoracic dysostosis and spondylocostal dysostosis(3,4). We describe two cases of the JarchoLevin syndrome, one of each subtype (spondylothoracic dysostosis and spondylocostal dysostosis). The cases illustrate the typical findings of the syndrome and highlight the differences between the two subtypes of this syndrome. Case Reports

The Jarcho-Levin syndrome (JLS) is a clinico-radiological entity characterized by short-neck, short-trunk, normal sized limbs and multiple vertebral and rib defects on skeletal survey. This syndrome was first described by Jarcho and Levin in 1938(1). About 65 cases have been reported in the From the Departments of Pediatrics and Radiology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029. Reprint requests: Professor I.C. Verma, Genetics Unit, Department of Pediatrics, Old Operation Theatre Building, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029. Received for publication: December 7, 1993; Accepted: April 30, 1994

Case 1: A 2-month-old boy was brought to the Pediatric Out-Patient with a 1.5 months history of fever and respiratory distress. He was born by Cesarean section at term, to a 28-year-old father and 25-yearold mother. His birth weight was 2,500 g and he cried 30 minutes after birth. However, he was noted to have severe respiratory distress at birth, with a respiratory rate of 150 per minute. He was the second child of non-consanguineous parents. His sister had died at four days of age due to cyanotic congenital heart disease. On examination his weight was 3.75 kg (10-25th centile), length 49 cm (