Craniofacial cephalometric morphology in children with CATCH 22 syndrome

Heliövaara, Arja; Hurmerinta, Kirsti

doi:10.1111/j.1601-6343.2006.00373.x

Cited by 23 publications

(38 citation statements)

References 28 publications

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“…Facial dysmorphism is pronounced in VCFS with vertical excess, malar flatness, mandibular retrusion, and a prominent nose 8,9 . Cephalometrically, the faces are long, both maxillae and mandibles are retrognathic, and the lower jaws are posteriorly divergated 10 . The ears are low set, 6 and the mouth is often held open.…”

Section: Introductionmentioning

confidence: 99%

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Dental development and tooth agenesis in children with velocardiofacial syndrome

Heliövaara

Rantanen²,

Arte

2011

International Journal of Paediatric Dentistry

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BACKGROUND. Variations in dental development and tooth agenesis have been reported in children with velocardiofacial syndrome (VCFS). AIM. The aim was to evaluate the dental development and missing permanent teeth in children with VCFS. DESIGN. Forty-five children (23 girls) with VCFS who had visited the cleft palate and craniofacial centre were studied retrospectively from orthopantomograms taken at the mean age of 7.9 years (range 5.8-12.9). Thirteen of the children with VCFS had palatal clefts. The deletion of 22q11 was verified by FISH techniques. The dental stages were assessed by the method of Demirjian, and the dental age was calculated according to the Finnish dental maturity reference values. A paired Student's t-test was used in the statistical analysis. RESULTS. Eight children (17%), four with palatal clefts, had tooth agenesis. Four children (9%) had agenesis of mandibular incisors. The missing teeth (n = 19) were mainly mandibular incisors (n = 6), maxillary lateral incisors (n = 2), and maxillary second premolars (n = 4). The dental age of the children with VCFS was not different from their chronological age, but there was great individual variation. CONCLUSIONS. A high prevalence of missing permanent teeth, especially mandibular incisors, was observed. The need for thorough clinical and radiological dental examination in children with VCFS is emphasized.

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Section: Introductionmentioning

confidence: 99%

“…8,9 Cephalometrically, the faces are long, both maxillae and mandibles are retrognathic, and the lower jaws are posteriorly divergated. 10 The ears are low set, 6 and the mouth is often held open. Oral findings in children with 22q11 deletion include anomalies in dental enamel and tooth shape.…”

Section: Introductionmentioning

confidence: 99%

Dental development and tooth agenesis in children with velocardiofacial syndrome

Heliövaara

Rantanen²,

Arte

2011

International Journal of Paediatric Dentistry

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“…It may be particularly relevant in clinically challenging populations such as in individuals with 22q11.2 deletion syndrome, where abnormal craniofacial and velopharyngeal characteristics are exhibited, but the relationship or effect that one may have on the other is not well understood. For example, studies have documented variations in hard palate length, cranial base angle, and velar length among this clinical population (Arvystas & Shprintzen, 1984;Heliovaara & Hurmerinta 2006;Ruotolo et al, 2006). Punjabi, Holshouser, D'Antonio, and Kuehn (2002) observed individuals with 22q11.2 deletion syndrome to have an abnormal levator muscle characterized as being thin and hypoplastic.…”

Section: Hard Palate Length (Hp)mentioning

confidence: 99%

Racial Variations in Velopharyngeal and Craniometric Morphology in Children: An Imaging Study

Kollara

Perry

Hudson

2016

J Speech Lang Hear Res

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Purpose: The purpose of this study is to examine craniometric and velopharyngeal anatomy among young children (4-8 years of age) with normal anatomy across Black and White racial groups. Method: Thirty-two healthy children (16 White and 16 Black) with normal velopharyngeal anatomy participated and successfully completed the magnetic resonance imaging scans. Measurements included 11 craniofacial and 9 velopharyngeal measures. Results: Two-way analysis of covariance was used to determine the effects of race and sex on velopharyngeal measures and all craniometric measures except head circumference. Head circumference was included as a covariate to control for overall cranial size. Sex did not have a significant effect on any of the craniometric measures. Significant racial differences were demonstrated for face height. A significant race effect was also observed for mean velar length, velar thickness, and velopharyngeal ratio. Conclusion:The present study provides separate craniofacial and velopharyngeal values for young Black and White children. Data from this study can be used to examine morphological variations with respect to race and sex.

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“…Some have reported platybasia in patients with 22q11DS with respect to a control group [5,6,7,13,19,20]. Others have used cut-off values, defining platybasia as 7° [21] or 10° [16] above the normal mean without specifying SDs.…”

Section: Discussionmentioning

confidence: 99%

Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance

2014

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BackgroundAn abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS). Platybasia increases the depth of the velopharynx and is therefore postulated to contribute to velopharyngeal dysfunction. Our objective was to determine the clinical significance of platybasia in 22q11DS by exploring the relationship between cranial base angles and speech resonance.MethodsIn this retrospective chart review at a tertiary hospital, 24 children (age, 4.0-13.1 years) with 22q11.2DS underwent speech assessments and lateral cephalograms, which allowed for the measurement of the cranial base angles.ResultsOne patient (4%) had hyponasal resonance, 8 (33%) had normal resonance, 10 (42%) had hypernasal resonance on vowels only, and 5 (21%) had hypernasal resonance on both vowels and consonants. The mean cranial base angle was 136.5° (standard deviation, 5.3°; range, 122.3-144.8°). The Kruskal-Wallis test showed no significant relationship between the resonance ratings and cranial base angles (P=0.242). Cranial base angles and speech ratings were not correlated (Spearman correlation=0.321, P=0.126). The group with hypernasal resonance had a significantly more obtuse mean cranial base angle (138° vs. 134°, P=0.049) but did not have a greater prevalence of platybasia (73% vs. 56%, P=0.412).ConclusionsIn this retrospective chart review of patients with 22q11DS, cranial base angles were not correlated with speech resonance. The clinical significance of platybasia remains unknown.

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Craniofacial cephalometric morphology in children with CATCH 22 syndrome

Abstract: Children with CATCH 22 have several minor distinctive morphological features in the craniofacial, pharyngeal, and cervical areas.

Cited by 23 publications

References 28 publications

Dental development and tooth agenesis in children with velocardiofacial syndrome

Dental development and tooth agenesis in children with velocardiofacial syndrome

Racial Variations in Velopharyngeal and Craniometric Morphology in Children: An Imaging Study

Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance

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