Indian Journal of Forensic Medicine & Toxicology
Vol. 15 No. 2 (2021): Indian Journal of Forensic Medicine & Toxicology

Acrocephalosyndactyly Syndrome: A Rare Case Report

Satya Ranjan Misra (Unknown)



Article Info

Publish Date
24 Mar 2021

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-facehypoplasia and characteristic facial deformities. Here there is a genetic mutation in the fibroblast growthfactor receptor 2 (FGFR2) gene with autosomal dominant inheritance. A case of an 8-year-old male child isreported 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 syndactylyof the feet and hands.

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