نتایج جستجو برای: jarcho

تعداد نتایج: 230  

Journal: :Medical Journal of Dr. D.Y. Patil University 2014

Journal: :Journal of Family & Reproductive Health 2020

Journal: :International Journal of Contemporary Pediatrics 2022

Jarcho-Levin syndrome (JLS) also known as spondylocostal dysplasia is a rare congenital dysplastic disorder involving ribs and vertebrae. It an autosomal recessive form of inheritance however dominant forms have been reported. Multiple genes postulated to be causative, exact genetic basis not known. Infants usually present at birth with respiratory distress varying degree thoracic vertebral ano...

Journal: :BMJ case reports 2015
Jaime L Martinez Santos Adam A Dmytriw Sonia Fermin

To cite: Martinez Santos JL, Dmytriw AA, Fermin S. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015210240 DESCRIPTION A 4-month-old Dominican girl was born prematurely with numerous malformations (figures 1–4) including facial asymmetry, low-implanted left ear, short neck, short trunk, barrel chest, a left preaxillary thoracic depression, thoracolumbar scolios...

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