As pointed out correctly by Dr Kirk there is a difference between hypernasal speech and hyponasal speech. The three patients described in our paper,1 which was published in the October issue of this year, all present with hypernasal speech. For patient 1, the hypernasality was confirmed by the clinician. The hypernasality seen in patient 2 was assessed by the speech and language therapists. No evidence of nasal cavity obstruction was found during examination by an ear, nose and throat surgeon. A velopharyngeal operation was performed on patient 3 due to hypernasality. Such an operation is performed in order to reduce hypernasality, and not for hyponasality. The hypernasal speech is, however, still present in this patient.
Thus, the deletions in our patients seem to be associated with hypernasal speech, hypothyroidism and learning disability or developmental delay.
Vergult S, Krgovic D, Loeys B et al: Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions. Eur J Hum Genet 2011; 19: 1032–1037.
The authors declare no conflict of interest.
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Vergult, S., Krgovic, D., Loeys, B. et al. Nasal speech in patients with 12q15 microdeletions. Eur J Hum Genet 20, 367 (2012) doi:10.1038/ejhg.2011.230