Upper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia
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Morphological deviations in the upper cervical spine and craniofacial morphology in patients with X-linked hypohidrotic ectodermal dysplasia (XLHED) were compared to non-syndromic controls.
All children and adolescents with genetically verified XLHED, registered at the Resource Centres for Oral Health in Rare Diseases, who met the inclusion criteria, were included. The group thus comprised 15 XLHED patients (3 girls and 12 boys, aged 8–16 years, mean 11.2 years). The control group comprised 22 non-syndromic pre-orthodontic children (14 girls and 8 boys aged 9–16 years, mean 11.9 years) with agenesis of one tooth, neutral occlusion and normal craniofacial morphology. The craniofacial and upper spine morphology was analysed on lateral cephalograms by standard methods. Differences between XLHED patients and controls were tested and adjusted for age and gender by multiple regression analyses.
Morphological deviations in the upper spine occur significantly more often in XLHED patients compared to controls (60 vs. 9.1%; p < 0.01). The cranial base angle (n-s-ar, p < 0.05), sagittal jaw relationship (ss-n-pg, p < 0.001), maxillary inclination (NSL/NL, p < 0.001) and mandibular inclination (NSL/ML, p < 0.01) were significantly smaller in XLHED patients compared to controls. The mandibular prognathia (s-n-pg) was significantly larger in XLHED patients compared to controls (p < 0.05).
The upper spine and the craniofacial morphology were different in XLHED patients compared to controls. The results of this study may contribute to a further understanding of the craniofacial and spinal phenotypic spectrum in patients with XLHED and thus have implications for diagnosis and treatment planning of these patients.
KeywordsHypohidrotic ectodermal dysplasia Cervical vertebrae Child Craniofacial abnormalities Spinal column Notochord
The Orthodontic clinic of the Municipal dental Service of Farum, Denmark is thanked for donating the material to the Department. Ib Jarle Christensen, Senior researcher, Department of Gastroenterology, Hvidovre Hospital, Denmark, is acknowledged for statistical advice. Jens Bjørn-Jørgensen is thanked for guidance regarding the use of TIOPS™. Copenhagen University Research Foundation (21-12-2012) is acknowledged for funding.
This study was funded by Copenhagen University Research Foundation (21-12-2012).
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. For this retrospective study formal consent is not required.
This is a retrospective study where historical radiographs form part of this study. Informed consent for obtaining the radiographs was given at the time when the radiographs were taken. The radiographs were taken in connection with treatment planning.
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