Musculo-mucous web velum and velopharyngeal dysfunction associated with 8q22.1–22.2 microduplication

This report presents a rare case of isolated non-cleft velopharyngeal dysfunction (VPD). An eight-year-old child presented 1. aphenotypically unique band-gap pattern of the velar musculature with anteroposterior insertion; 2. a mosaic partial trisomy on chromosome 19 as well as microduplications on chromosomes 8 and 22. Following cytogenetic analysis, microduplication on chromosome 8 was found in another member of her family. A family history of VPI with hypernasality and nasal regurgitation was reported over three different generations on the patient's maternal side.

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