Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature
Abstract Background Apert syndrome is a congenital condition characterized by coronal craniosynostosis, ex-orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands. Apert syndrome is linked by autosomal dominant inheritance to fibroblast growth factors receptor gene altera...
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| Format: | Article |
| Language: | English |
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Springer
2025-02-01
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| Series: | Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1007/s44162-024-00064-9 |
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| author | Maimuna Abdatam Charles John Nhungo Frank Muhamba Ally Hamis Mwanga Larry Akoko Charles A. Mkony |
| author_facet | Maimuna Abdatam Charles John Nhungo Frank Muhamba Ally Hamis Mwanga Larry Akoko Charles A. Mkony |
| author_sort | Maimuna Abdatam |
| collection | DOAJ |
| description | Abstract Background Apert syndrome is a congenital condition characterized by coronal craniosynostosis, ex-orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands. Apert syndrome is linked by autosomal dominant inheritance to fibroblast growth factors receptor gene alteration. Case presentation We present the case of a 20-month-old African boy who exhibited the characteristic facial features of Apert syndrome. Additionally, the child presented with syndactyly of both the fingers and toes. He was born to non-consanguineous parents, with the father being 33 years old at the time of the child's birth. A skull X-ray revealed an increased anteroposterior diameter of the skull, consistent with the cranial abnormalities associated with Apert syndrome. Further imaging of the hands and feet confirmed the pathognomonic syndactyly characteristic of the condition. The patient successfully underwent a series of surgeries to release the syndactyly in both his right and left hands. These surgical interventions have significantly improved the functionality of his hands. Conclusions There is a paucity of information about Apert syndrome in Africa. Therefore, in order to enhance strong advocacy of this condition in Africa, more cases should be reported. |
| format | Article |
| id | doaj-art-2e5296ea29934fb39d0010c0cdacd694 |
| institution | Kabale University |
| issn | 2731-085X |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Springer |
| record_format | Article |
| series | Journal of Rare Diseases |
| spelling | doaj-art-2e5296ea29934fb39d0010c0cdacd6942025-02-09T12:59:38ZengSpringerJournal of Rare Diseases2731-085X2025-02-01411510.1007/s44162-024-00064-9Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literatureMaimuna Abdatam0Charles John Nhungo1Frank Muhamba2Ally Hamis Mwanga3Larry Akoko4Charles A. Mkony5Department of Surgery, School of Medicine, Muhimbili University of Health and Allied SciencesDepartment of Surgery, School of Medicine, Muhimbili University of Health and Allied SciencesDepartment of Surgery, Muhimbili National HospitalDepartment of Surgery, School of Medicine, Muhimbili University of Health and Allied SciencesDepartment of Surgery, School of Medicine, Muhimbili University of Health and Allied SciencesDepartment of Surgery, School of Medicine, Muhimbili University of Health and Allied SciencesAbstract Background Apert syndrome is a congenital condition characterized by coronal craniosynostosis, ex-orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands. Apert syndrome is linked by autosomal dominant inheritance to fibroblast growth factors receptor gene alteration. Case presentation We present the case of a 20-month-old African boy who exhibited the characteristic facial features of Apert syndrome. Additionally, the child presented with syndactyly of both the fingers and toes. He was born to non-consanguineous parents, with the father being 33 years old at the time of the child's birth. A skull X-ray revealed an increased anteroposterior diameter of the skull, consistent with the cranial abnormalities associated with Apert syndrome. Further imaging of the hands and feet confirmed the pathognomonic syndactyly characteristic of the condition. The patient successfully underwent a series of surgeries to release the syndactyly in both his right and left hands. These surgical interventions have significantly improved the functionality of his hands. Conclusions There is a paucity of information about Apert syndrome in Africa. Therefore, in order to enhance strong advocacy of this condition in Africa, more cases should be reported.https://doi.org/10.1007/s44162-024-00064-9Apert syndromeSyndactylyCraniosynostosisAcrocephalosyndactyly |
| spellingShingle | Maimuna Abdatam Charles John Nhungo Frank Muhamba Ally Hamis Mwanga Larry Akoko Charles A. Mkony Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature Journal of Rare Diseases Apert syndrome Syndactyly Craniosynostosis Acrocephalosyndactyly |
| title | Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature |
| title_full | Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature |
| title_fullStr | Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature |
| title_full_unstemmed | Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature |
| title_short | Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature |
| title_sort | apert syndrome a rare congenital anomaly and experience from a low resource country a case report and review of the literature |
| topic | Apert syndrome Syndactyly Craniosynostosis Acrocephalosyndactyly |
| url | https://doi.org/10.1007/s44162-024-00064-9 |
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