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Apert syndrome: Diagnostic and management problems in a resource-limited country.

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.

SUBMITTER: Barro M

PROVIDER: S-EPMC6908957 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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Apert syndrome: Diagnostic and management problems in a resource-limited country.

Barro Makoura M Ouedraogo Yahaya S YS Nacro Fatimata S FS Sanogo Bintou B Kombasséré Solange O SO Ouermi Alain S AS Tamboura Hassane H Cessouma Raymond K RK Nacro Boubacar B

Pediatric reports 20191202 4

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 craniof ...[more]

PMID: 31871604

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Apert syndrome: Diagnostic and management problems in a resource-limited country.

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Apert syndrome: Diagnostic and management problems in a resource-limited country.

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