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
شماره ركورد
17590
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.
From Page
125
NaturalLanguageKeyword
Spondylocostal dysostosis , Jarcho , Levin syndrome , Neonate
JournalTitle
Fırat Medical Journal
To Page
127
JournalTitle
Fırat Medical Journal
Link To Document