A Newborn with Cloverleaf Skull and Sacrococcygeal Eversion due to a Rare FGFR2-Related Craniosynostosis Disorder: Beare-Stevenson Syndrome.
- Resource Type
- Article
- Authors
- Shin, Jennifer; Muchmore, Skyler; Clark, Robin D.
- Source
- Neonatology Today. Sep2023, Vol. 18 Issue 9, p211-215. 5p.
- Subject
- *TRACHEOTOMY
*GENETICS
*GENETIC mutation
*COCCYX
*CELL receptors
*MULTIPLE human abnormalities
*CEREBROSPINAL fluid shunts
*FEEDING tubes
*CRANIOSYNOSTOSES
*SACRUM
*GASTROSTOMY
*RARE diseases
- Language
- ISSN
- 1932-7129
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.