title: Variability of the cranial and dental phenotype in Williams syndrome.
abstract: BACKGROUND
  Williams syndrome (WS) is a rare congenital disorder involving the cardiovascular system, connective tissue, and the central nervous system, resulting in mild to moderate mental retardation, a specific cognitive profile, unique personality characteristics, distinctive facial features, and cardiovascular disease. The majority of individuals with a clinical diagnosis of WS have a contiguous gene deletion at chromosome 7 (7q11.23). Physical features include characteristic facial features with full prominent cheeks, wide mouth, long philtrum, small nose with depressed nasal bridge, heavy orbital ridges, medial eyebrow flare, dental abnormalities, hoarse voice, growth retardation, and cardiovascular abnormalities (most commonly supravalvular aortic stenosis and/or peripheral pulmonary artery stenosis). The cognitive profile is distinctive, consisting of strengths in auditory memory, language, and face-processing, but extreme weakness in visuospatial, numerical and problem-solving abilities. Neurological studies have identified a significantly decreased brain volume in adult individuals with WS with relatively normal development of the limbic, frontal and cerebellar structures.
  
  
  OBJECTIVE
  The aims were to analyse the neurocranium, the craniofacial region, and the dentition in a well defined Norwegian group of individuals with WS. In order to accomplish this, normative cephalometric standards for the neurocranium, including the cranial base and the sella turcica, were established for Norwegian males and females from 6 to 21 years of age, using lateral radiographic cephalograms from the Oslo University Craniofacial Growth Archive.
  
  
  METHODS
  The study material comprised radiographic lateral cephalograms, orthopantomograms and dental casts from 62 individuals with WS ranging from 4 to 44 years. The lateral cephalograms, orthopantomograms and dental casts were analysed using standard methods reported in the literature.
  
  
  RESULTS
  Neurocranium: The results from the cephalometric analyses showed that the size and shape of the neurocranium in WS differed from normal controls. A flattening of the superior aspect of the parietal bone was found and the posterior prominence of the occipital bone was larger. These findings were in concordance with published neuroanatomical/neuropathological studies on WS and fit well with the reported anatomical aberrations in the WS brain, e.g. a smaller brain volume where some parts are of relatively normal size while others are decreased. The anterior and posterior cranial base was shorter in WS, but with a normal cranial base angle. The thickness of the calvarian bones, especially the frontal and occipital bones, was greater in WS than in normal controls. Sella turcica: The size of the sella turcica was somewhat smaller in WS compared with normal controls, though not significant. Aberrant types of shape of the sella turcica in WS are demonstrated. The correlation between prenatal malformation in the pituitary gland/sella turcica and the postnatal morphology of the sella turcica is discussed. The craniofacial skeleton: Two areas, in addition to the cranial base, have been identified to contribute to the characteristic facial appearance in WS; the anterior inclination of the maxilla, and the shape of the mandible. The severely deficient bony chin in combination with the high mandibular plane angle can explain earlier clinical descriptions of a retrusive mandible in WS. Frequent mouth breathing during childhood and the smaller cranial base may be associated with the characteristic craniofacial pattern. Dentition: In individuals with WS over 10 years of age 40.5 per cent had agenesis of one or more permanent teeth and 11.9 percent had agenesis of 6 teeth or more. The missing permanent teeth in the maxilla most commonly included 2nd premolars, 1st premolars, and lateral incisors. In the mandible most commonly 2nd premolars, 1st premolars, and central incisors were absent. The tooth crowns of permanent teeth were smaller, both in the mesio-distal and labio-lingual dimension. The permanent tooth crowns have several characteristic deviations from normal shape; especially incisors in both jaws were tapered or screwdriver-shaped. An evaluation of taurodontism on permanent molars was performed. However, most of the molars rated as being taurodontic had short total tooth lengths and could thus be rated taurodontic without meeting the classical definition.
  
  
  CONCLUSIONS
  These studies have shown aberrations in the neurocranium including the sella turcica in WS not previously reported. In the craniofacial skeleton specific traits have been identified to contribute to the characteristic facial appearance in WS. Dental aberrations in the permanent dentition including agenesis, smaller size, and aberrant shape of teeth, are common in WS.
authors.affiliation: Institute of Clinical Odontology, Faculty of Dentistry, University of Oslo, Norway.
authors.forename: Stefan
authors.initials: S
authors.lastname: Axelsson
mesh_terms: D000293:Adolescent; D000328:Adult; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging; D019229:Dentition, Permanent; D019066:Facies; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D011862:Radiography, Panoramic; D012658:Sella Turcica / Q000000981:diagnostic imaging / Q000473:pathology; D019291:Skull Base / Q000000981:diagnostic imaging / Q000473:pathology; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging; D018980:Williams Syndrome / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology