Acrocephalosyndactyly Syndrome: A Rare Case Report
DOI:
https://doi.org/10.37506/ijfmt.v15i2.14984Keywords:
Craniosynostosis, Facial Deformity, Malocclusion, Syndactyly.Abstract
Acrocephalosyndactyly or Apert syndrome is a rare disorder in which the fingers and toes are fused,
giving the appearance of webbed hand and feet. Also, there is craniosynostosis, leading to severe mid-face
hypoplasia and characteristic facial deformities. Here there is a genetic mutation in the fibroblast growth
factor receptor 2 (FGFR2) gene with autosomal dominant inheritance. A case of an 8-year-old male child is
reported here with frontal bossing, acrocephaly, prominent ocular hypertelorism with divergent strabismus,
saddle-shaped nose, mid-face hypoplasia, crowded anterior teeth, sparse hair and severe bilateral syndactyly
of the feet and hands.
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2021-03-24
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How to Cite
Acrocephalosyndactyly Syndrome: A Rare Case Report. (2021). Indian Journal of Forensic Medicine & Toxicology, 15(2), 3915-3919. https://doi.org/10.37506/ijfmt.v15i2.14984