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Tooth eruption is a complex developmental process requiring coordinated navigation through alveolar bone and oral epithelium. Primary failure of tooth eruption (PFE) is associated with several syndromes primarily affecting skeletal development, but it is also known as a nonsyndromic autosomal-dominant condition. Teeth in the posterior quadrants of the upper and lower jaw are preferentially affected and usually result in an open bite extending from anterior to posterior. In this study, we show that familial, nonsyndromic PFE is caused by heterozygous mutations in the gene encoding the G protein-coupled receptor for parathyroid hormone and parathyroid hormone-like hormone (PTHR1). Three distinct mutations, namely c.1050-3C > G, c.543+1G > A, and c.463G > T, were identified in 15 affected individuals from four multiplex pedigrees. All mutations truncate the mature protein and therefore should lead to a functionless receptor, strongly suggesting that haplo-insufficiency of PTHR1 is the underlying cause of nonsyndromic PFE. Although complete inactivation of PTHR1 is known to underlie the autosomal-recessive Blomstrand osteochondrodysplasia (BOCD), a lethal form of short-limbed dwarfism, our data now imply that dominantly acting PTHR1 mutations that lead to haplo-insufficiency of the receptor result in a nonsyndromic phenotype affecting tooth development with high penetrance and variable expressivity.

The incidence of a sella turcica bridge in combination with a PITX2 mutation would suspect that sella turcica anomalies are typical symptoms of the syndrome. Sella turcica anomalies in association with craniofacial and dental aberrations, such as maxillary retrognathia, skeletal Class III relationship and hypoplasia of teeth, might be important indicators for ARS caused by PITX2 mutation.

In orthodontic diagnosis, facial symmetry is important. The aim of the present study was to analyse the perception of various degrees of facial asymmetry exhibited by carefully designed virtual three-dimensional (3D) material. Three groups of raters (30 orthodontists, 30 maxillofacial surgeons, and 30 laymen) rated, using a six-point scale, the degree of asymmetry of eight randomly presented 3D faces exhibiting incremental soft tissue alterations. The faces were created by gradually transforming the nose or chin in increments of 2 mm away from the computed symmetry plane. Differences between the groups in analysis of facial asymmetry, the rating of facial stimulus, and right and left facial asymmetry were determined using a t-test. The results demonstrated that raters' profession did not influence the point at which they identified asymmetry. Even laymen were able to detect asymmetries when located near the midline of 3D faces. All raters identified asymmetries of the nose as more negative than those of the same degree of the chin. A left-sided deviation of the nose along the facial symmetry plane lead to a more negative rating of facial appearance, whereas a right-sided deviation of the chin was rated as less attractive. Nasal architecture plays a crucial role in the perception of symmetry. These findings provide clinicians with a greater understanding of how faces are perceived, a process which is of particular interest in treating orthognathic patients, and those with congenital anomalies.

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