title: 22q11.2 deletion detected by endoscopic observation of pharyngeal pulsations in a child with submucous cleft palate and persistent velopharyngeal insufficiency.
abstract: 22q11.2 microdeletion syndrome (22q11.2DS) is the most common syndrome associated with cleft palate and velopharyngeal insufficiency (VPI). Over 180 clinical features have been described. Most common features include: cardiac malformations, cleft palate, velopharyngeal insufficiency, characteristic facial features, hypotonia, behavioral disorders, and musculoskeletal disorders among several other fenotipical features. A case of 22q11.2DS confirmed by cytogenomic analysis is presented with review of the literature. Main clinical features were a submucous cleft palate (SMCP) with persistent VPI after palatoplasty, an ectopic left internal carotid artery and a prominent aortic root. VPI was corrected with a pharyngeal flap, tailored according to findings of videonasopharyngoscopy, videofluoroscopy and neck CT scan with contrast.
authors.affiliation: Ian Jackson Craniofacial and Cleft Palate Clinic, Beaumont Health System, Royal Oak, MI, United States. Electronic address: amysunza@gmail.com.
authors.forename: Antonio
authors.initials: A
authors.lastname: Ysunza
authors.affiliation: Ian Jackson Craniofacial and Cleft Palate Clinic, Beaumont Health System, Royal Oak, MI, United States.
authors.forename: Kongkrit
authors.initials: K
authors.lastname: Chaiyasate
authors.affiliation: Ian Jackson Craniofacial and Cleft Palate Clinic, Beaumont Health System, Royal Oak, MI, United States.
authors.forename: Mark A
authors.initials: MA
authors.lastname: Micale
authors.affiliation: Ian Jackson Craniofacial and Cleft Palate Clinic, Beaumont Health System, Royal Oak, MI, United States.
authors.forename: M Melissa
authors.initials: MM
authors.lastname: McBrien
authors.affiliation: Ian Jackson Craniofacial and Cleft Palate Clinic, Beaumont Health System, Royal Oak, MI, United States.
authors.forename: David A
authors.initials: DA
authors.lastname: Bloom
authors.affiliation: Ian Jackson Craniofacial and Cleft Palate Clinic, Beaumont Health System, Royal Oak, MI, United States.
authors.forename: Donald P
authors.initials: DP
authors.lastname: Gibson
authors.affiliation: Ian Jackson Craniofacial and Cleft Palate Clinic, Beaumont Health System, Royal Oak, MI, United States.
authors.forename: Elliott
authors.initials: E
authors.lastname: Weinhouse
mesh_terms: D002648:Child; D002972:Cleft Palate / Q000150:complications* / Q000601:surgery; D004062:DiGeorge Syndrome / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D004724:Endoscopy / Q000379:methods*; D005260:Female; D005471:Fluoroscopy; D006801:Humans; D010614:Pharynx / Q000601:surgery; D014057:Tomography, X-Ray Computed; D014681:Velopharyngeal Insufficiency / Q000150:complications* / Q000601:surgery
keywords: 22q11.2 microdeletion syndrome; Cleft palate; Speech; Surgery; Vascular anomalies; Velocardiofacial syndrome