SPONDYLOCOSTAL DYSPLASIA

Kanwal Laique, Zanobia Waseem, Syed Shariq Ullah

Abstract


Spondylocostal dysplasia is a rare genetic disease. It is also known as Jarcho-Levin syndrome. It is characterized by defects in vertebrae and abnormalities of ribs. It is inherited in both autosomal dominant and recessive pattern but the latter one is more common. It is of two types: Spondylocostal dysplasia type I (SCD- I) and Spondylocostal dysplasia type II (SCD- II). The severity of disease varies among affected one. Though it is considered as less severe but respiratory compromise may pose severe threat. The diagnosis is based on clinical and radiological findings. With treatment, affected individual may survive to adult hood. 

KEY WORDS:

Jarcho-Levin syndrome, Spondylocostal dysplasia (SCD) and spondylothoracic dysplasia (STD), radiology, syndrome

ABBREVIATIONS:

SCD: Spondylocostal dysplasia

STD: spondylothoracic dysplasia


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References


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