International Clinical and Medical Case Reports Journal (ISSN: 2832-5788) | Volume 4, Issue 5 | Case Series | Open Access DOI
Jignesh Sharma*
Jignesh Sharma*, Ashutosh Kumar Singh, Shrinivas G L, Bhavna Dhingra Bhan
Department of Pediatrics, AIIMS Bhopal, India
*Correspondence to: Jignesh Sharma
Fulltext PDFWe report two clinically and genetically confirmed cases of Apert Syndrome to emphasize the diagnostic relevance of detailed phenotypic evaluation in early identification of this rare craniosynostosis syndrome due to pathogenic variants in the FGFR2 gene. The first case is a 14-year-old male who presented with severe growth retardation, craniofacial dysmorphism, classic mitten-hand syndactyly; he also had a de novo pathogenic FGFR2 variant (c.755C>G, p.Ser252Trp). The second case is a 1.5-year-old male who presented with early signs of turri-brachycephaly, midfacial hypoplasia, rosebud hands, microcephaly, and had a pathogenic FGFR2 variant (c.758C>G, p.Cys253Trp). The in-depth phenotypic analysis in both cases emphasizes the need to capture specific craniofacial and limb features with surgical input, as these features often enable prompt diagnosis of the disorder and expedite genetic testing, counseling, and multidisciplinary care in individuals with Apert Syndrome.
Apert Syndrome, Acrocephalosyndactyly type I, FGFR2 gene, Genetic syndrome, Craniosynostosis, Mitten hands/feet, Syndactyly
Jignesh Sharma, Ashutosh Kumar Singh, Shrinivas G L, Bhavna Dhingra Bhan. Dissecting The Clinical Phenotype of Apert Syndrome. Int Clinc Med Case Rep Jour. 2025;4(5):1-7.