A CASE SERIES WITH EMPHASIS ON INHERITANCE PATTERN OF APERT SYNDROME.

Apert syndrome (acrocephalosyndactylia) is a developmental malformation characterized by craniosynostosis, a cone-shaped calvarium (acrocephaly), hypertelorism, midface hypoplasia, pseudo cleft-palate, a parrot beak-shaped nose, pharyngeal attenuation, and syndactyly of the hands and feet. According to Cohen, the incidence of Apert syndrome is about 15 per 1,000,000 live births. It is rarely reported from India. Apert syndrome was first reported by Wheaton in 1894 and French pediatrician Eugene Apert published a series of nine cases in 1906. The inheritance of Apert syndrome is autosomal dominant with the locus of mutation of FGFR2 on chromosome 10q (10q25-26) or may develop as a spontaneous mutation often associated with increased paternal age. We report 3 children with clinical features of Apert syndrome highlighting the inheritance pattern.