Year: 2018 | Month: October | Volume: 8 | Issue: 10 | Pages: 294-296
Apert Syndrome with CCHD: A Rare Association
Sunil Ku. Agarwalla1, Rina Meher2, Poonam Agrawal2
1Associate Professor, Dept. Of Paediatrics, M.K.C.G. Medical College, Berhampur, Odisha, India
2Senior Resident, Dept. Of Paediatrics, M.K.C.G. Medical College, Berhampur, Odisha, India
Corresponding Author: Sunil Ku. Agarwalla
An 8months female child came to our Dept. of Paediatrics, M.K.C.G. Medical College, Berhampur, Odisha, India for evaluation of motor delay with history of cyanotic spell with features of Apert Syndrome. Apert syndrome is a rare type 1 acrocephalosyndactyly syndrome characterized by dysmorphic facial features, craniosynostosis and severe syndactyly of hands and feet. It represents an autosomal dominant inheritance and occurs due to the gene mutations in the receptors of the fibroblast growth factor 2(FGFR2).
Key words: Acrocephalosyndactyly, Apert Syndrome