Two cases of spondyloepiphyseal dysplasia congenital

Spondyloepiphyseal dysplasia congenital is caused by mutation in the type 2 collagen gene（COL2A1）, characterized by short stature and skeletal anomalies. Children with SEDC often have retinal degeneration, hearing issue and cleft palate. We report two cases of neonates who have short stature, cleft...

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Published inJournal of Japan Society of Perinatal and Neonatal Medicine Vol. 56; no. 2; pp. 294 - 298
Main Authors Hayakawa, Hiroko, Murakami, Tomoki, Yamane, Yuko, Honda, Akane, Maeno, Seiko, Sumi, Seishi, Nishimura, Yutaka
Format Journal Article
LanguageJapanese
Published Japan Society of Perinatal and Neonatal Medicine 2020
Subjects
COL2A1
spondyloepiphyseal dysplasia congenita
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Summary:Spondyloepiphyseal dysplasia congenital is caused by mutation in the type 2 collagen gene（COL2A1）, characterized by short stature and skeletal anomalies. Children with SEDC often have retinal degeneration, hearing issue and cleft palate. We report two cases of neonates who have short stature, cleft palate and hearing issue. Both of them have mutation in the COL2A1（case1: c.3589G>A, p.Gly1197Ser, case2: c.3400 G>A, p.Gly1134Ser）Skeletal anomalies are difficult to diagnose before birth. Severity is different individual. Comprehensive diagnosis involving clinical features, radiologic signs and genetic testing, appropriate treatment, and cooperation with other departments are necessary.
ISSN:1348-964X
2435-4996
DOI:10.34456/jjspnm.56.2_294