Spondilokostal Dizostozis: Tipik Bulguları Olan Bir Yenidoğan Olgusu

Spondilokostal dizostozis, kosta ve vertebra anomalilerinin eşlik ettiği kısa göğüs kafesi cüceliği ile karakterize Jarcho-Levin sendromununfenotipik grubundan biridir. Burada sendromun tipik bulgularını gösteren bir spondilokostal dizostozisli yenidoğan olgusu sunuldu. Prenatalneonatal dönemde erken tanı konulması, uygun genetik danışmanlık ve tedavinin sağlanmasına olanak sağlar. iki ve

Spondylocostaldysostosis: A Newborn Case with The Typical Findings

Spondylocostaldysostosis: A Newborn Case with The Typical Findings 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 ofsyndrome. The early diagnosis in prenatal and neonatal period allow to provide appropriate genetic counseling and managing. the

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