Greta Vantrappen

The velo-cardio-facial syndrome : the otorhinolaryngeal manifestations and implications

The velo-cardio-facial syndrome (VCFS), due to a deletion in chromosome 22 on its long arm (22q11), is a leading cause of velopharyngeal dysfunction and cleft palate. With the recent finding of a deletion on chromosome 22q11 in these patients with velopharyngeal dysfunction, a routine test is available making the diagnosis of VCFS much more frequent than previously thought.

Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family.

Objective To evaluate audiometric and vestibular signs and symptoms in a new DFNA9 family. Setting Tertiary referral centers. Methods A multigeneration Belgian family with late-onset progressive sensorineural hearing loss and concomitant ves−tibular impairment with an autosomal dominant pattern of inheritance underwent clinical and genetic evaluation. Medical history was recorded. Blood samples were taken for genetic linkage and mutation analyses. Pure-tone audiometry, speech audiometry and vestibular examinations were performed. Onset and progression in hearing impairment were evaluated with linear regression analysis of longitudinal threshold-on-age data. Results Linkage to DFNA9 was confirmed and mutation analysis revealed a P51S mutation in the COCH gene. Several patients had a Ménières-like presentation. All patients developed late-onset progressive sensorineural hearing loss eventually leading to severe deafness and vestibular failure.

Autosomal dominant isolated velopharyngeal insufficiency

To the Editor: In 1981, in this journal, Andres et al. (1) described a three generation family with autosomal dominant isolated velopharyngeal incompetence. This disorder was assigned an entry in Mendelian Inheritance in Men, MIM 167500. Velopharyngeal insufficiency is a major feature of the velo-cardio facial syndrome (2), and this anomaly has therefore gained more interest in the clinical genetics specialty. It is surprising that despite this renewed interest, no additional families with autosomal dominant isolated velopharyngeal insufficiency have been reported since its original description. We here describe another family with this velopharyngeal disorder. The index patient (Fig. 1: IV:9) was referred for severe velopharyngeal insufficiency without overt or submucous cleft of the soft palate. She presented delayed speech development, with hypernasal speech. She received speech therapy from the age of 3 years until 10 years, without clin-