Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature

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• 作者：Antonio Ysunza ; Kenneth Shaheen ; David J. Aughton ; Mark A. Micale ; Richard Merson ; Kris Rutkowski
• 关键词：Jacobsen syndrome ; Cleft palate ; Speech ; Surgery
• 刊名：International Journal of Pediatric Otorhinolaryngology
• 出版年：2013
• 出版时间：September, 2013
• 年：2013
• 卷：77
• 期：9
• 页码：1601-1605
• 全文大小：1223 K

文摘

Jacobsen syndrome is an uncommon but well-known contiguous gene syndrome caused by partial deletion involving the long arm of chromosome 11. Most common features include: psychomotor impairment, facial dysmorphism, and thrombocytopenia. Cleft palate has been rarely reported.

A case of Jacobsen syndrome confirmed by cytogenomic analysis is presented with review of the literature. Main clinical features were phonological disorder, submucous cleft palate (SMCP) and velopharyngeal insufficiency (VPI). VPI was corrected surgically according to findings of videonasopharyngoscopy and videofluoroscopy.

It is concluded that clinicians should consider that VPI associated with SMCP may be the main manifestations of a chromosomal syndrome.