Soto-Brambila AP, Alatorre-Jiménez MA

Language: Spanish
References: 10
Page: 250-254
PDF size: 567.34 Kb.

Text Extraction

Autosomal spondylocostal recessive dysostosis (ARSD) or Jarcho-Levin syndrome (# 277300) is caused mainly by mutations of the genes involved in Notch signaling, highlighting DLL3, located on chromosome 19q13.2. It is a rare disease of variable severity, associated with defects of vertebral and costal segmentation, characterized by short neck and trunk with limited mobility, winged scapulae and short stature. The objective is to present two cases of related patients, a brother of 11 years and a sister of 16 years with the syndrome. The fourth and fifth Mexican cases of world literature are reported. An early and accurate diagnosis favors the good evolution of the patient and allows an adequate genetic counseling. Recognizing and monitoring multidisciplinary will help to know the etiology of the disease, as well as its evolution and management.

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