{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T05:55:01Z","timestamp":1757310901625},"reference-count":8,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2019,12,2]],"date-time":"2019-12-02T00:00:00Z","timestamp":1575244800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Reports"],"abstract":"<jats:p>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 Sour\u00f4 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\u2019t 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.<\/jats:p>","DOI":"10.4081\/pr.2019.8224","type":"journal-article","created":{"date-parts":[[2019,12,2]],"date-time":"2019-12-02T11:34:47Z","timestamp":1575286487000},"page":"8224","source":"Crossref","is-referenced-by-count":2,"title":["Apert Syndrome: Diagnostic and Management Problems in a Resource-Limited Country"],"prefix":"10.3390","volume":"11","author":[{"given":"Makoura","family":"Barro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yahaya S.","family":"Ouedraogo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatimata S.","family":"Nacro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bintou","family":"Sanogo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Solange O.","family":"Kombass\u00e9r\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain S.","family":"Ouermi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassane","family":"Tamboura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raymond K.","family":"Cessouma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boubacar","family":"Nacro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2019,12,2]]},"reference":[{"key":"ref1","first-page":"1","article-title":"Transverse soft tissue distraction preceding separation of complex syndactylies","author":"Lehmeyer","year":"2015","journal-title":"J Hand Surg"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1186\/s13256-019-2173-x","article-title":"Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report","volume":"13","author":"Brajadenta","year":"2019","journal-title":"J Med Case Rep"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/ng0295-165","article-title":"Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome","volume":"9","author":"Wilkie","year":"1995","journal-title":"Nature Genet"},{"key":"ref4","first-page":"44","article-title":"Clinical and genetic findings of two cases with Apert syndrome","volume":"76","author":"Cammarata-Scalisi","year":"2019","journal-title":"Bol Med Hosp Infantil Mexico"},{"key":"ref5","first-page":"254","article-title":"Syndrome d\u2019Apert : \u00e0 propos d\u2019un cas au CHUP Charles-de-Gaulle de Ouagadougou","volume":"102","author":"Y\u00e9","year":"2009","journal-title":"Bull Soc Pathol Exot"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1002\/pd.744","article-title":"Prenatal diagnosis of Apert syndrome: report of two cases","volume":"23","author":"Skidmore","year":"2003","journal-title":"Prenat Diagn"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"83","DOI":"10.4103\/0972-1363.189995","article-title":"Apert\u2019s syndrome: A rare case","volume":"28","author":"Kumar","year":"2016","journal-title":"J Indian Acad Oral Med Radiol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1086\/378419","article-title":"The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm","volume":"73","author":"Glaser","year":"2003","journal-title":"Am J Hum Genet"}],"container-title":["Pediatric Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.pagepress.org\/journals\/index.php\/pr\/article\/download\/8224\/8123","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.pagepress.org\/journals\/index.php\/pr\/article\/download\/8224\/8171","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.mdpi.com\/2036-7503\/11\/4\/8224\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,10]],"date-time":"2022-02-10T04:12:14Z","timestamp":1644466334000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2036-7503\/11\/4\/8224"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,2]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2019,12]]}},"alternative-id":["pr.2019.8224"],"URL":"https:\/\/doi.org\/10.4081\/pr.2019.8224","relation":{},"ISSN":["2036-7503"],"issn-type":[{"value":"2036-7503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,2]]}}}