Jarcho-Levin syndrome presenting with diaphragmatic hernia
EUROPEAN JOURNAL OF PEDIATRIC SURGERY, cilt.18, sa.4, ss.272-274, 2008 (SCI-Expanded, Scopus)
- 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.