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- Title
A Newborn with Cloverleaf Skull and Sacrococcygeal Eversion due to a Rare FGFR2-Related Craniosynostosis Disorder: Beare-Stevenson Syndrome.
- Authors
Shin, Jennifer; Muchmore, Skyler; Clark, Robin D.
- Abstract
The article discusses a case of Beare-Stevenson Syndrome in a newborn with a cloverleaf skull and multiple congenital anomalies. It mentions the genetic cause involving a pathogenic variant in the FGFR2 gene, the clinical features, and the importance of genetic testing in severe craniosynostosis cases with additional anomalies.
- Subjects
TRACHEOTOMY; GENETICS; GENETIC mutation; COCCYX; CELL receptors; MULTIPLE human abnormalities; CEREBROSPINAL fluid shunts; FEEDING tubes; CRANIOSYNOSTOSES; SACRUM; GASTROSTOMY; RARE diseases
- Publication
Neonatology Today, 2023, Vol 18, Issue 9, p211
- ISSN
1932-7129
- Publication type
Article