Abstract
Background
Jarcho-Levin syndrome (JLS) is a genetic condition that constitutes specific vertebral anomalies combined with coastal or thoracic anomalies due to specific gene mutations. Although the condition is associated typically to Puerto-Ricans, we describe the novel case of JLS in a Pakistani family that presented with respiratory distress secondary to the condition.
Case presentation
The case is a full-term girl that had a webbed neck with an undefined chest deformity. Radiology showed kyphoscoliosis and a crablike chest. Early identification of these high morbidity conditions is key to allow for optimal treatment and improved outcomes.
Conclusions
We have provided a brief breakdown of the management principles of the condition and more than 80 years after the first case of Jarcho-Levin syndrome was reported, we present the diagnostic criterion for JLS.
Cite this Article (APA)
Imran, A., Sheharyar, Z., Taimoor, A. K., Muhammad, A. Z., Muhammad, H. K., Noor, U. A. Z. (2022). Jarcho-Levin syndrome in Pakistan: a case report and review of 321 cases on the principles of diagnosis and management. The Cardiothoracic Surgeon. https://doi.org/10.1186/s43057-022-00075-6
