Craniofacial, speech-language, cognition, and motor manifestations in a pediatric patient with Apert syndrome: a case report
Year: 2026
Type: article
Study design: Case Report
Abstract: Apert syndrome is a rare craniosynostosis syndrome characterized by premature fusion of cranial sutures, midfacial hypoplasia, and syndactyly. It frequently presents with multisystemic developmental challenges that require multidisciplinary management. This report describes a 9-year-old monolingual Persian-speaking Iranian boy with a clinical diagnosis of Apert syndrome, living in a welfare-affiliated care center. This case provides a comprehensive multidomain assessment, with particular emphasis on language and cognition, for which data remain limited. Imaging confirmed classic features, including turricephaly, midfacial hypoplasia, dental crowding, and complex syndactyly. Speech sound assessment showed phonological processes like fronting and stopping. Acoustic analysis indicated reduced prosodic variability. Cognitive testing (Stanford-Binet, Tehran edition) indicated intellectual disability (IQ=43) with deficits in working memory, fluid reasoning, and visuospatial skills. Motor assessment revealed heterogeneous motor profile, with relatively lower performance in response speed and upper-limb speed and dexterity. Although institutional care may have contributed developmental challenges because of limited stimulation and social interaction, the severity of the impairments appears to be primarily related to the neurodevelopmental and musculoskeletal effects of Apert syndrome. This case report highlights the integrated craniofacial, cognitive, linguistic, and motor profile of Apert syndrome. Early diagnosis, radiographic monitoring, and interdisciplinary intervention are essential for supporting optimal functional and psychosocial development.
Source: Journal of Medical Case Reports
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,890
OpenAlex ID: W7219055337