Author/Authors :
İPEK, Mehmet Şah Diyarbakır Kadın Doğum ve Çocuk Hastalıkları Hastanesi - Yenidoğan Hastalıkları Kliniği, Türkiye , OKUR, Nilüfer Diyarbakır Kadın Doğum ve Çocuk Hastalıkları Hastanesi - Yenidoğan Hastalıkları Kliniği, Türkiye
Title Of Article :
Spondylocostaldysostosis: A Newborn Case with The Typical Findings
Abstract :
Spondylocostal dysostosis is one of two phenotypic groups of Jarcho-Levin syndrome, which characterized by short trunk dwarfism associated with rib and vertebral abnormalities. Here, we report a case of a newborn infant with spondylocostal dysostosis, which illustrates the typical findings of the syndrome. The early diagnosis in prenatal and neonatal period allow to provide appropriate genetic counseling and managing.
NaturalLanguageKeyword :
Spondylocostal dysostosis , Jarcho , Levin syndrome , Neonate
JournalTitle :
Fırat Medical Journal
