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1/4. Familial deletion of 22q11.2.

    We present a mother and her son, both carrying a deletion of chromosome 22q.11.2. They manifest clinical heterogeneity. The mother has schizophrenia, an IQ of 70. tetralogy of fallot, a hypernasal voice, but does not have the characteristic facies. Her son has mild psychomotor developmental delay. tetralogy of fallot and mild facial features characteristic of VCFS.
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keywords = voice
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2/4. Posterior pillar webbing and palatopharyngeus displacement: possible causes of congenital palatal incompetence.

    Three cases of congenital palatal incompetence in the absence of the usual stigmata associated with hypernasality are presented. In two instances, mucosal webbing of the posterior pillars was noted and in one case the palatopharyngeus muscle was displaced. Hypernasal voice quality was apparent in each patient. A z-plasty on both sides of the posterior pillars is suggested as the treatment of choice when no other morphologic abnormalities are present.
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ranking = 1
keywords = voice
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3/4. velopharyngeal insufficiency starting at puberty without adenoidectomy.

    At the cleft palate Unit of The Montreal Children's Hospital a number of patients are seen each year who developed velopharyngeal insufficiency after adenoidectomy. Each time one of these patients is seen, the question is asked: "What would have happened to the speech if adenoidectomy had not been done, and the adenoid had been allowed to undergo the normal process of atrophy at puberty?" We had not seen a patient develop velopharyngeal insufficiency at puberty without adenoidectomy until recently, when an 11.5-year-old boy presented with a history of hypernasality for 1.5 years. physical examination revealed the soft palate to be slightly short but with good mobility. The voice was mildly hypernasal but there was no nasal escape. Radiologic investigation revealed a very deep nasopharynx with virtual absence of adenoid tissue and a slight shortness of the palate. The child had been on speech therapy and the recommendation was that the therapy be stopped. When the child was seen 2.5 months after cessation of speech therapy, the hypernasality had cleared completely. Speech Pathologists at other cleft palate Units were contacted and no similar cases were known. The literature also did not reveal any similar cases of velopharyngeal insufficiency developing after puberty in the absence of adenoidectomy and without a cleft palate.
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ranking = 1
keywords = voice
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4/4. A possible sequela of transoral approach to the upper cervical spine. Velopharyngeal incompetence.

    The authors describe a case of velopharyngeal incompetence (VPI), as a consequence to the neurosurgical treatment for a complex malformation of the cranio-spinal junction. A 61-year-old woman underwent a transoral-transvelar surgical approach for odontoid resection. One month later surgical fixation of the posterior spine with autologous iliac bone graft was performed. Following these operations the patient presented a marked alteration of speech intellegibility due to hypernasal voice resonance and through incapability to articulate the oral phonemes correctly. She also complained of nasal regurgitation of fluids and solids while swallowing. She underwent a clinical phoniatric assessment of voice and speech. Videonasopharyngoscopy allowed us to inspect the velopharyngeal sphincter and to show clearly the type and morphology of its closure defect. Correction of VPI was achieved by means of a velopharyngoplasty (pharyngeal flap), in spite of technical difficulties due to local scarring and to a problematic exposure of the surgical field.
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ranking = 2
keywords = voice
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