Jarcho-Levin syndrome presenting with diaphragmatic hernia

SÜRMELİ ONAY Ö., Kinik S. T., Otgun I., Arda I. S., Varan B.

EUROPEAN JOURNAL OF PEDIATRIC SURGERY, cilt.18, sa.4, ss.272-274, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 4
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1055/s-2008-1038364
  • Dergi Adı: EUROPEAN JOURNAL OF PEDIATRIC SURGERY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.272-274
  • Anahtar Kelimeler: Jarcho-Levin syndrome (JLS), congenital diaphragmatic hernia, vertebral anomalies, spondylocostal dysostosis (SCD), spondylothoracic dysostosis (STD)
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

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.