ABSTRACT

Apert syndrome (AS) is the most frequent form of the acrocephalosyndactyly syndromes. It has an estimated incidence of one in 100000 to 160000 newborns.A 3-year-old boy with the karyotype of 46, XY and diagnosed with AS was directed to our clinic for delay in speech acquisition. This is the first case of AS in the Cyprus Island. Due to the mutation in fibroblast growth factor receptor 2 (FGRF2) gene, he was born with the typical phenotype of AS. The Ankara Developmental Screening Inventory (ADSI) was applied to the parents, and the patient was asked some practical directives. The outcome of ADSI showed that the child could be at 13-15 months of developmental age with more than 30% of growth retardation. As per our knowledge, this is the second case of 46, XY child who was diagnosed with acrocephalosyndactyly syndrome and shows a strong association with autistic spectrum disorders.