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Case Report

Apert Syndrome: Diagnostic and Management Problems in a Resource-Limited Country

1
Department of Pediatrics, Sourô Sanou University Hospital, Bobo-Dioulasso
2
Department of Pediatrics, Regional Hospital Center of Ouahigouya
*
Author to whom correspondence should be addressed.
Pediatr. Rep. 2019, 11(4), 8224; https://doi.org/10.4081/pr.2019.8224
Submission received: 27 June 2019 / Revised: 19 August 2019 / Accepted: 13 September 2019 / Published: 2 December 2019

Abstract

Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We report an observation in a 4-month-old female infant, whose father was 65 years old. The infant was admitted to the neonatology of Sourô Sanou University Hospital (Burkina Faso) for respiratory distress in a congenital malformation disorders context with the notion of resuscitation for 10 minutes at birth. Her clinical examination revealed a craniofacial dysmorphism, syndactyly, choanal atresia, a cleft palate and a retardation of the psychomotor development. The paraclinical assessment consisted of a radiograph of the skeleton and a cerebral tomodensitometry confirming bicoronal synostosis and bone syndactyly; an abdominopelvic, cardiac ultrasound didn’t reveal any abnormalities; toxoplasmic serology was negative and rubella serology positive. The association of Apert syndrome with positive rubella serology seems fortuitous. Also, the association of choanal atresia and cleft palate has not commonly been reported in Apert syndrome. In the absence of surgical the infant has been followed until 9 months with therapeutic prospects.
Keywords: apert; acrocephalosyndactyly; burkina faso apert; acrocephalosyndactyly; burkina faso

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MDPI and ACS Style

Barro, M.; Ouedraogo, Y.S.; Nacro, F.S.; Sanogo, B.; Kombasséré, S.O.; Ouermi, A.S.; Tamboura, H.; Cessouma, R.K.; Nacro, B. Apert Syndrome: Diagnostic and Management Problems in a Resource-Limited Country. Pediatr. Rep. 2019, 11, 8224. https://doi.org/10.4081/pr.2019.8224

AMA Style

Barro M, Ouedraogo YS, Nacro FS, Sanogo B, Kombasséré SO, Ouermi AS, Tamboura H, Cessouma RK, Nacro B. Apert Syndrome: Diagnostic and Management Problems in a Resource-Limited Country. Pediatric Reports. 2019; 11(4):8224. https://doi.org/10.4081/pr.2019.8224

Chicago/Turabian Style

Barro, Makoura, Yahaya S. Ouedraogo, Fatimata S. Nacro, Bintou Sanogo, Solange O. Kombasséré, Alain S. Ouermi, Hassane Tamboura, Raymond K. Cessouma, and Boubacar Nacro. 2019. "Apert Syndrome: Diagnostic and Management Problems in a Resource-Limited Country" Pediatric Reports 11, no. 4: 8224. https://doi.org/10.4081/pr.2019.8224

APA Style

Barro, M., Ouedraogo, Y. S., Nacro, F. S., Sanogo, B., Kombasséré, S. O., Ouermi, A. S., Tamboura, H., Cessouma, R. K., & Nacro, B. (2019). Apert Syndrome: Diagnostic and Management Problems in a Resource-Limited Country. Pediatric Reports, 11(4), 8224. https://doi.org/10.4081/pr.2019.8224

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