Apert Syndrome
Year: 2025
Type: article
Study design: Case Report
Abstract: A 13-year-old child, born of a non-consanguineous marriage, presented with acne, craniosynostosis, dolichocephaly, syndromic facies, hypertelorism, downward slanting eyes [Figure 1a], retruded mid-face, high arched palate without clefts, crowded and misaligned teeth [Figure 1b] and webbed fingers and toes [Figure 1c]. In addition, he had hyperhidrosis. Rest of the examination was normal. Considering a diagnosis of Apert syndrome, topical benzoyl peroxide was started, and a craniofacial referral was sought. It occurs due to FGFR2 mutation with autosomal dominant inheritance. Ruling out other differentials is possible on clinical grounds; hence, knowledge of the clinical features is important.[1] Radiological investigations were done, which were consistent with Apert syndrome [Supplementary Figure 1]. Genetic analysis could not be performed due to non-affordability.Figure 1: (a) Clinical image of the face of the child showing centrally retruded face, hypertelorism and downward slanting eyes with facial acne. (b) Clinical image of the oral cavity showing high arched palate and crowded teeth with misalignment. (c) Clinical image of the hands showing fusion of 1st and 2nd fingers and 3rd and 4th fingers resulting in webbing with triradiate palmsSupplementary Figure 1: CT reconstruction image showing abnormal skull shape, lack of sutures and small retracted mandibleDeclaration of patient consent The authors certify that they have obtained all appropriate parent consent forms. In the form, the parent has given consent for the patient’s images and other clinical information to be reported in the journal. The parent understands that the patient’s name and initials will not be published and due efforts will be made to conceal the patient’s identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest. Use of artificial intelligence (AI) The preparation of this manuscript was carried out entirely by the author without the use of artificial intelligence technologies.
Institution: All India Institute of Medical Sciences Bhubaneswar
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4411493071