Apert's Syndrome: A Case Report with Review

Madhuri Gawande, Minal Chaudhary, Mimansha Patel

Abstract


There are several developmental malformations affecting human population, Apert syndrome or acrocephalo-syndactyly is one of the rare autosomal dominant malformation syndromes characterized by craniosynostosis, severe symmetric syndactyly and a variety of abnormalities of the skin, skeleton, brain, other visceral organs and oro-facial anomalies. These craniofacial characteristics predispose the affected individual to maxillary transverse and sagittal hypoplasia with concomitant dental crowding, a pseudo cleft palate and a skeletal and dental anterior open bite. Most cases of Apert syndrome are sporadic. However a few examples of genetic transmission of the disease have been observed and an autosomal dominant mode of inheritance has been considered. Generally, clinical signs and symptoms are sufficient to confirm the diagnosis of ‘Apert Syndrome’. Characteristic radiographic finding of hand, foot and AP view of skull further confirms clinical diagnosis. We report a case of Apert syndrome in an 11 year old male patient with brief literature review.


Keywords


Apert syndrome; Craniosynostosis; Syndactyly; oro-facial; Autosomal dominant; Hypoplasia.

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