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Syndromic craniosynostosis with elbow joint contracture.
Takuya Akai1, Kenji Yamamoto, Hideaki Iizuka
1Department of Neurosurgery, Kanazawa Medical University, Ishikawa, Japan. akai@kanazawa-med.ac.jp
Pediatric Neurosurgery
|February 9, 2006
Summary
This study identifies a novel syndromic craniosynostosis linked to a specific mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The identified FGFR2 Ser351Cys mutation causes severe craniofacial abnormalities and developmental issues.
Area of Science:
- Genetics
- Developmental Biology
- Medical Genetics
Background:
- Craniosynostosis is a congenital condition characterized by the premature fusion of cranial sutures.
- Syndromic craniosynostosis involves premature suture fusion along with other systemic abnormalities.
- Fibroblast growth factor receptors (FGFRs) play a crucial role in skeletal development and craniofacial morphogenesis.
Observation:
- A male infant presented with ocular proptosis, a pseudotail, and respiratory obstruction at birth.
- The infant developed craniosynostosis, craniofacial dysmorphism, hydrocephalus, and bilateral elbow contractures.
- Treatment involved fronto-orbital advancements and a ventriculoperitoneal shunt.
Findings:
- DNA analysis revealed heterozygosity for a missense mutation in exon 9 of the FGFR2 gene (Ser351Cys).
- This specific mutation has been previously reported in seven other cases.
- All reported cases, including the current one, exhibit severe craniosynostosis, midface hypoplasia, elbow contractures, developmental delay, and early mortality.
Implications:
- This finding reinforces the critical role of FGFR2 in craniofacial and skeletal development.
- The Ser351Cys mutation serves as a significant genetic marker for a severe syndromic craniosynostosis.
- Understanding this mutation's impact can aid in genetic counseling and potential therapeutic strategies for affected families.