Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasia.

OBJECTIVE: To describe the somatic development and craniofacial morphology in males affected with hypohidrotic ectodermal dysplasia (HED) and female carriers and to find clinical markers for early clinical diagnosis of possible female carriers. DESIGN: A clinical and radiographic examination of the affected males and the female carriers. SETTING AND SAMPLE POPULATION: Twenty-four affected males and 43 female carriers with a known mutation in the ED1 gene were examined in a dental clinic in either Copenhagen or Aarhus, Denmark. EXPERIMENTAL VARIABLES: Height, body mass index (BMI) and head circumference. Cephalometric analysis of the craniofacial morphology. OUTCOME MEASURE: Data on the somatic and craniofacial development in the affected males and female carriers. RESULTS: No difference was observed regarding body height in the affected males and female carriers, BMI values were lower than the mean in most affected boys and adolescence and head circumference was somewhat decreased in both groups compared to normative data. The cephalometric analysis showed a reduced maxilla length and prognathism, a normal size and shape of the mandible and a reduced sagittal jaw relationship in both HED groups. Furthermore, affected males had a retroclined nasal bone and a more anteriorly inclined maxilla. A short nose, protruding lips, reduced facial convexity and facial height, characterized the soft tissue profile of the affected males. In female carriers, the lips were significantly retruded when compared with controls. CONCLUSION: No specific somatic or cephalometric markers could be observed, in the female carrier group.