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Case Reports
. 2018 May 13;12(1):126.
doi: 10.1186/s13256-018-1638-7.

A 37-year-old Nigerian woman with Apert syndrome - medical and psychosocial perspectives: a case report

M A Kana  1 , T S Baduku  2 , H Bello-Manga  3 , A S Baduku  4
Affiliations
Case Reports

A 37-year-old Nigerian woman with Apert syndrome - medical and psychosocial perspectives: a case report

M A Kana et al. J Med Case Rep. .

Abstract

Background: Apert syndrome is a rare genetic disease that presents a diagnostic dilemma because of its similarity with other craniosynostosis syndromes. Currently, there is paucity of reports about adult patients in African medical literature. Therefore, this case report highlights medical and psychosocial problems associated with the disease in an adult woman who is resident in a resource-constrained setting.

Case presentation: Our patient is a 37-year-old African woman. She had abnormal characteristics of the skull, face, and extremities that were detected at birth. She is clinically stable but moderately depressed as an adult. Mutation in fibroblast growth factor receptor 2 (Ser252Trp) was positive. Her physical deformities and the laboratory findings confirmed the diagnosis of Apert syndrome. She missed opportunities for vital interventions to limit the physical and psychosocial effects of the disease, especially during early growth and developmental period, mainly due to the inadequacy of the institutions offering medical and psychosocial support. As a child she did not complete formal education or acquire vocational skills even though intellectual disability was never established. During adulthood she became socially deprived owing to her physical features and educational handicap. Her lifelong dependency is an unfortunate social consequence starting with developmental challenges encountered during childhood and worsened by adult social maladjustment.

Conclusions: Our patient does not have medically life-threatening features but was depressed. We recommend strengthening of institutions for early medical intervention and lifetime psychosocial support to limit physical and psychosocial effects of Apert syndrome among adult survivors in resource-limited settings.

Keywords: Adult; Apert syndrome; Psychosocial; Rehabilitation.

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Conflict of interest statement

Ethics approval and consent to participate

Ethics approval waiver was obtained from the Barau Teaching Hospital Research Ethics Committee (Kaduna, State, Nigeria). The study is “Not applicable” for involvement or use of any animal or human data or tissue.

Consent for publication

Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Competing interests

The authors declare that they have no competing interests.

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Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Anterior and lateral pictorial and X-ray views of the face
Fig. 2
Fig. 2
Picture and X-ray of the hands
Fig. 3
Fig. 3
Picture and X-ray of the feet
See this image and copyright information in PMC

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