The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

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Authors: Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy Katherine Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst
Cited by: 1
References: 23

Abstract

-channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little attention in previous research. A total of 18 participants with molecular genetically confirmed CS were recruited, 11 females and 7 males, aged 9-63 years. Voice pitch analysis was conducted using the Voice Tools application, comparing these findings with normative data from healthy individuals. We show that adult females with CS exhibit voice pitches consistently lower than the normative values, particularly below the bottom quartile, suggesting a distinct impact of the underlying gene defect on the adult female voice phenotype. Conversely, adult males with CS show less noticeable deviations in voice pitch compared to healthy males. Children with CS exhibit a voice pitch closer to normative ranges. Adults with CS exhibit a lower voice pitch than healthy controls, especially evident in females. This study highlights the influence of CS on voice pitch, possibly influenced by anatomical abnormalities in CS such as enlarged craniofacial structures and connective tissue alterations affecting vocal fold mass and pliability.

Fields of Study & Subjects

Neuroscience of respiration and sleep Cleft Lip and Palate Research Folate and B Vitamins Research

Publication details

Journal / source
American Journal of Medical Genetics Part A
Publisher
Wiley
Volume
200
Issue
5
Pages
1062–1068
Publication date
19 January 2026
Language
EN