Apert Syndrome: Report of a rare congenital malformation
- PMID: 28811814
- PMCID: PMC5510146
- DOI: 10.12669/pjms.333.12878
Apert Syndrome: Report of a rare congenital malformation
Abstract
A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work.
Keywords: Apert syndrome; Rare congenital anomaly.
Figures
References
-
- Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genetics. 1995;9(2):165–172. doi:10.1038/ng0295-165. - PubMed
-
- Goriely A, McVean GA, Röjmyr M, Ingemarsson B, Wilkie AO. Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line. Science. 2003;301(5633):643–646. doi:10.1126/science.1085710. - PubMed
-
- Amar T, Krishna V, Sona K. Apert syndrome: A rare presentation. J Indian Acad Clin Med. 2007;8:245–246.
-
- Phil Foreman. Education of Students with an Intellectual Disability: Research and Practice (PB) IAP. 2009:30.
-
- Baker AB, Baker LH. Clinical Neurology. Vol. 3. Medical Dept., Harper & Row; 1979. Apert’s Syndrome; p. 47.
Publication types
LinkOut - more resources
Full Text Sources
Other Literature Sources