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

Abstract 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 Jacob...

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Veröffentlicht in:International journal of pediatric otorhinolaryngology 2013-09, Vol.77 (9), p.1601-1605
Hauptverfasser: Ysunza, Antonio, Shaheen, Kenneth, Aughton, David J, Micale, Mark A, Merson, Richard, Rutkowski, Kris
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container_end_page 1605
container_issue 9
container_start_page 1601
container_title International journal of pediatric otorhinolaryngology
container_volume 77
creator Ysunza, Antonio
Shaheen, Kenneth
Aughton, David J
Micale, Mark A
Merson, Richard
Rutkowski, Kris
description Abstract 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.
doi_str_mv 10.1016/j.ijporl.2013.06.007
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subjects Articulation Disorders - diagnosis
Articulation Disorders - therapy
Child
Cineradiography - methods
Cleft palate
Cleft Palate - diagnosis
Cleft Palate - surgery
Diagnosis, Differential
Female
Follow-Up Studies
Humans
Jacobsen Distal 11q Deletion Syndrome - diagnosis
Jacobsen Distal 11q Deletion Syndrome - therapy
Jacobsen syndrome
Laryngoscopy - methods
Otolaryngology
Pediatrics
Rare Diseases
Speech
Surgery
Velopharyngeal Insufficiency - diagnosis
Velopharyngeal Insufficiency - diagnostic imaging
Velopharyngeal Insufficiency - surgery
title 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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