Jarcho-Levin Syndrome Presenting with Diaphragmatic Hernia

Abstract

Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple vertebral anomalies. The prognosis is directly related to respiratory complications. Reported findings associated with Jarcho-Levin syndrome include congenital heart defects, abdominal wall malformations, genitourinary malformations, upper limb anomalies, and neural tube defects. We report on a 6-day-old girl who presented with an incomplete form of Jarcho-Levin syndrome with late-presenting congenital diaphragmatic hernia and congenital heart disease.

Key words

Jarcho‐Levin syndrome (JLS) - congenital diaphragmatic hernia - vertebral anomalies - spondylocostal dysostosis (SCD) - spondylothoracic dysostosis (STD)

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