Evidence That the Association Between Hypernasality and 22q11 Deletion Syndrome Still Goes Undetected

A Case Study

This manuscript presents a case study that underscores the need for increasing awareness that hypernasality, velopharyngeal insufficiency, and a number of other anomalies may be related through the common etiology of 22q11 deletion syndrome. The child presented here has a long-standing history of cardiac defects, hypernasality, poor speech intelligibility, and other anomalies. The variety of symptoms, occurring over a relatively broad time span, caused the family to seek several individual specialists on separate occasions. A major factor influencing this case was the absence of communication between the various specialists. Each health care specialist treated the child based on the limited perspective of the individual discipline, missing the fundamental etiology of the child's disorders. It was not until the diagnosis of 22q11 deletion syndrome was established that successful, coordinated treatment of the disorder was realized.

Key Words: 22q11 deletion syndrome, hypernasality, cardiac anomalies, velo-cardiofacial syndrome, interdisciplinary assessment, craniofacial

Submitted on September 13, 1999
Accepted on June 30, 2000

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