Present-day importance of the velocardiofacial syndrome. To commemorate the late prof. Eva sedlácková, MD, on the 50th anniversary of her original publication.
In the year 1955, Sedlácková described a syndrome of congenitally shortened velum accompanied by hypernasal speech, facial dysmorphisms and further anomalies, as well as mental retardation. In the following years, she also reported on cardiac malformations and submucous clefts. In 1978, Shprintzen's group published a very similar pattern apart from overt clefts, coined it as velocardiofacial syndrome (VCFS) and explained it in 1992 by microdeletion 22q11.2. Between 1996 and 2001, Vrticka and colleagues demonstrated del 22q11.2 in 16 of 20 cases classified as Sedlácková syndrome. Thus, the common etiology and the identity of Sedlácková syndrome with Shprintzen syndrome were proven. Our findings of frequent cardiovascular malformations, of prevailing mental retardation and of several late-onset psychoses emphasize the necessity of genetic testing in all individuals suspected of VCFS. In del 22q11.2-proven cases, we recommend genetic counseling because of the risk of more severe expression of the VCFS symptoms in subsequent generations. Recently, several authors repeatedly stressed the importance of VCFS by pointing out the associated cardiac and laryngeal malformations and by warning against the risk of innate carotid medialization in velopharyngeal surgery, by evoking linked otological problems, by elucidating the accompanying immune and hormonal dysfunctions, by summarizing the voice and resonance disorders as well as by discussing the difficulties in rehabilitation due to mental, language and speech retardation in VCFS subjects. Because of its multiple impact, the clinical pattern of VCFS due to del 22q11.2 remains a persistent and important present-day diagnostic and therapeutic challenge.
Vrticka
Karel
K
Department of Phoniatrics, Cantonal Hospital Lucerne, Lucerne, Switzerland. karel.vrticka@bluewin.ch
D004062:DiGeorge Syndrome / Q000266:history / Q000503:physiopathology*; D004423:Ear / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics*; D049673:History, 20th Century; D006801:Humans; D008297:Male