title: Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasia.
abstract: 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.
  
  
  METHODS
  A clinical and radiographic examination of the affected males and the female carriers.
  
  
  METHODS
  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.
  
  
  METHODS
  Height, body mass index (BMI) and head circumference. Cephalometric analysis of the craniofacial morphology.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  No specific somatic or cephalometric markers could be observed, in the female carrier group.
authors.affiliation: Department of Paediatric Dentistry and Clinical Genetics, School of Dentistry, University of Copenhagen, Copenhagen, Denmark. mol@odont.ku.dk
authors.forename: M O
authors.initials: MO
authors.lastname: Lexner
authors.forename: A
authors.initials: A
authors.lastname: Bardow
authors.forename: J
authors.initials: J
authors.lastname: Bjorn-Jorgensen
authors.forename: J M
authors.initials: JM
authors.lastname: Hertz
authors.forename: L
authors.initials: L
authors.lastname: Almer
authors.forename: S
authors.initials: S
authors.lastname: Kreiborg
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000848:Anodontia / Q000209:etiology* / Q000235:genetics; D001827:Body Height; D015992:Body Mass Index; D002508:Cephalometry / Q000706:statistics & numerical data*; D002648:Child; D002675:Child, Preschool; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000150:complications* / Q000473:pathology; D053331:Ectodysplasins / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D019767:Maxillofacial Abnormalities / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D012886:Skull / Q000002:abnormalities*
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins