Jarcho-Levin syndrome is a rare disorder characterised by defects in vertebral and costal segmentation of varying severity. Respiratory complications are the main cause of death or severe comorbidity due to a restrictive rib cage. A 3 months old infant with Spondylocostal dysostosis and associated bronchomalacia experiencing severe asynchrony during the weaning process is reported. The Neurally...

Jarcho-Levin syndrome (JLS) is a condition manifested by malformations of vertebral bodes and related ribs. There are two major subtypes spondylocostal dysostosis and spondylothoracic dysostosis, with different survival rates, associated malformations, and inheritance patterns. We have experienced an autopsy case of a premature female fetus with multiple congenital anomalies. She was 30 weeks o...

A "butterfly" vertebra is a rare congenital anomaly, presenting as a sagittal cleft in the vertebral body. In the literature it has been described as an isolated finding, but it can also be associated with various syndromes, such as Alagille, Jarcho-Levin, Crouzon and Pfeiffer syndrome. We present a case of a 35-year old man with chronic low back pain. The diagnosis of a butterfly vertebra of S...

Butterfly vertebra is a rare congenital malformation of the spine, which is usually reported in the literature as an isolated finding. We describe a 40-year-old woman that presented to our emergency department with back pain and sciatica. Initial radiological evaluation revealed an incidental finding of a L4 butterfly vertebra in the anteroposterior and lateral view radiographs. The patient pre...

through spinal defect and histopathological fi ndings.[2] Majority of NTDs are isolated/non-syndromic and are not associated with other congenital malformations. However in about 10% of the cases, NTD can be a part of genetic syndrome hence may follow Mendelian inheritance. The syndromes associated with neural tube defects include Walker-Warburg syndrome, Jarcho-Levin syndrome, Robert syndrome ...