Infant of a Diabetic Mother with Spondylocostal Dysostosis and Multiple Congenital Anomalies

نویسندگان

  • Handan Hakyemez Toptan
  • Nilgün Karadağ
  • Abdülhamit Tüten
  • Tülin Gökmen Yıldırım
چکیده

Jarcho-Levin syndrome is a rare genetic disorder characterized by respiratory insufficiency and multiple spine and rib abnormalities. It was first described by Jarcho and Levin in 1938. Spondylocostal dysostosis (SCD) and spondylothoracic dysostosis (STD) are the subtypes of Jarcho-Levin Syndrome, which show a hereditary picture. Autosomal dominant, autosomal recessive, and sporadic cases have been described in the literature (1, 2). The prevalence of this syndrome has been reported as 0.25/10.000. A developmental problem that occurs in a period between the 4th and 8th weeks of the fetal life is believed to be responsible for the pathogenesis, although its cause is not completely known. Multiple organ anomalies may accompany (3).

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تاریخ انتشار 2017