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The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the NSD1 gene. We investigated the dental manifestations of this disorder and found one or several premolar teeth were absent in 9 out of 13 (69%) affected children and adolescents. A heterozygous mutation in the NSD1 gene was identified in 12 patients, including all patients with hypodontia. The severity of the hypodontia seemed to increase with the severity of aberration of the NSD1. More than 50% of the patients had enamel defects or excessive tooth wear. Dental age, based on tooth formation, was within the normal range. A characteristic occlusion for Sotos syndrome could not be identified. As agenesis of premolars was a common feature in these patients affected with Sotos syndrome, we recommend panoramic radiography at the age of 7 years. If premolars are missing, proper preventive and restorative care is necessary to maintain the deciduous molars. © 2009 Wiley-Liss, Inc.

Cohen syndrome (Mendelian Inheritance in Man [MIM] no. 216550) is a rare, autosomal-recessive inherited disorder with mental retardation and a typical appearance. The condition is relatively common in Finland where 35 patients have been diagnosed. We studied 22 patients in detail, obtaining anthropometric measurements of the head and face, and cephalometric radiographs of 14 patients (14-57 years of age). Measurements of patients were compared to population norms and matched controls. Anthropometric analysis confirmed and quantified the previously described syndrome features: small head size [-4 standard deviations (SD)], with varying cephalic index. Width of the upper face was close to normal, but width of the lower face was small. Philtrum length was shorter than in healthy controls (p = 0.0039 in females and p = 0.0014 in males). The measurements from standardized radiographs revealed short cranial base dimensions (-2.2 and -2.6 SD), but normal cranial base angles. Prognathism of jaws was within normal limits. Reduced head size (microcephaly), short philtrum and small cranial base dimensions are essential features in Cohen syndrome. In addition, most patients had forward-inclined upper incisors and maxillary prognathia. We conclude that exact measurements mostly confirmed the Cohen syndrome description based previously on clinical impression.

Short-root anomaly (SRA), occurring mostly in maxillary incisors, is defined as developmentally very short, blunt dental roots. The condition has a genetic background and is related to hypodontia. Earlier population studies have been based on schoolchildren with developing dentitions and have indicated prevalence figures between 1% and 10%. We studied a random sample of existing panoramic radiographs of 2000 university students for SRA. Roots as long as or shorter than the crowns in the incisors and visually evaluated as very short, blunt roots bilaterally in the posterior teeth were classified as SRA. The prevalence was 1.3%. According to anamnestic information, half the SRA patients had undergone orthodontic therapy, but pre-treatment radiographs were unavailable. In 70% of the SRA patients the short-rooted tooth pairs were upper incisors, but also involved were maxillary premolars, lateral incisors, and lower second premolars. Women were significantly more often affected. We discuss other factors known to cause short-rooted teeth and conclude that the population prevalence for genetic SRA in fully developed dentitions is close to our 1.3%.

We report follow-up from birth up to 16 years of age of a patient with a previously undescribed combination of dysmorphic features. These include: intrauterine growth retardation developing to normal adult stature with truncal obesity, asymmetry of the midface skeleton with severe orthodontic problems, brachydactyly of the hands and feet, wide medial phalanges of the fingers, partial soft tissue syndactyly, simian creases and normal mental development. We consider other differential diagnoses and suggest that the patient represents a hitherto undescribed syndrome.

The effects of cervical inclination and body position on airway measurements were studied in 12 cadavers (8 males) aged 26–62 years. None had any injuries in the head and neck region or anomalies of the cervical spine. The upper airway of the tracheostomized cadavers was cleaned by suction and radiopaque contrast media was sprayed into the pharynx. Lateral cephalometric X-rays were taken in a modified cephalostat. In order to obtain maximum cervical flexion and extension as well as a middle position, the cephalostat was adjusted in antero–posterior dimension for three cervical inclinations in both upright and supine positions. When taking the radiographs the Frankfort plane was adjusted so that it was horizontal when the subject was seated and vertical while the subject was recumbent. Cephalometric pharyngeal airway dimensions were measured at five levels ranging from palatopharynx to hypopharynx. We found that pharyngeal airway dimensions increased at all levels with increasing cervical inclination, while supine posture independently decreased the measurements. The effect of cervical inclination was larger at lower levels of pharynx than at higher levels. These findings indicate that cervical inclination plays a major role in modifying the dimensions of the passive upper airway. Therefore the effects of cervical inclination and body position should be adjusted for in studies of the upper airway in cadavers, and probably also in anesthetized subjects.

The aim of this study was to assess the oral health of patients with aspartylglucosaminuria, a heritable lysosomal storage disorder, and to recommend guidelines for treatment.Eighty-two patients with aspartylglucosaminuria and 122 control subjects were examined clinically; in addition, panoramic radiographs were evaluated in 61 patients with aspartylglucosaminuria and 61 control subjects.High prevalences of caries, gingivitis, and oral Candida (P.001), extensive gingival overgrowths (18%; P.001), benign odontogenic tumors or tumorlike lesions (8%; P = .057), reduced maxillary sinuses (P.001), limited mouth opening (P.001), and food retention in the mouth (45%) were the major oral findings that distinguished the patients with aspartylglucosaminuria from the control subjects. Adults with aspartylglucosaminuria had diverse oral health problems, early loss of several permanent teeth being the most disabling feature.Patients with aspartylglucosaminuria appear to be at a higher risk for a number of oral disorders; however, poor oral hygiene and failure to cooperate increase these patients' risk of dental and periodontal diseases, making successful prevention crucial.

Skeletal stability during the first year after mandibular advancement surgery and fixation using biodegradable self-reinforced poly-l-lactide (SR-PLLA) screws, without postoperative intermaxillary fixation, was studied in 25 patients by means of cephalometric measurements. The magnitude of advancement was on average, 3.88 mm at pogonion (PG) (range 1.25-6.5 mm) and 4.57 mm at B-point (range 2.75-7.5 mm). After one year a mean relapse backwards of 0.59 mm at the PG (15%) and 0.78 mm at the B-point (17%) was observed. Nineteen patients (76%) and 17 patients (68%) were stable at PG and B-point, respectively. SR-PLLA screws are considered to be comparable to other forms of rigid internal fixation for fixation of bilateral splitting osteotomies after mandibular advancement, as far as skeletal stability is concerned.

Diastrophic dysplasia (DTD) is a well characterized, recessively inherited osteochondrodysplasia. Forty-eight patients with DTD were studied for craniofacial characteristics. Of these patients, 58% had cleft palate. A cephalometric analysis based on lateral cephalograms was performed. We observed a short anterior cranial base, vertical nasal bones, short and posteriorly positioned upper and lower jaws, increased anterior facial height, increase in the sagittal length of the body of the cervical vertebrae, and an abnormal dens of the second cervical vertebra. DTDST, in which mutations responsible for the disease occur, is a gene that codes for a sulphate transporter membrane protein. The craniofacial anomalies in DTD most likely result from deficient development and growth of cartilaginous structures and are probably due to defective sulfation of the proteoglycans of the cartilage.

Objective – To show that the head may shrink in adult patients with aspartylglucosaminuria (AGU), a neurodegenerative disease. Method – The head circumference (HC) of 40 adult patients (age at baseline 15 to 47) was measured twice with an interval of 10 years. Of these 40, 21 aged 15–47 and 19 young patients aged 5–14 as well as 40 healthy controls underwent lateral cephalometric radiography. Results – During 10 years’ follow-up, the HC of 26 (65%) had decreased by 1 to 4.5 cm (mean 1.7, P

Despite its unequivocal advantages, breast feeding may be associated with undesired side-effects. Recently, we have shown an association between exposure via mother's milk to dioxins and developmental defects of the child's teeth. The present study was undertaken to analyze further the association between the duration of breast feeding and the occurrence of dental defects. For this purpose, 2 different populations were selected. The first population comprised 40 children who had mineralization defects in the permanent 1st molars, and their age-living area- and sex-matched controls. The median duration of breast feeding was 9 months in the affected children compared to 6 months in the controls. The defects were more extensive after prolonged breast feeding. The second population consisted of 97 children whose mothers had been encouraged to extensive and prolonged breast feeding. Of these children, 24 had mineralization defects. They all had been breastfed longer than 8 months. In both study populations mineralization defects were associated with the duration of breast feeding. The result suggests that long breast feeding may increase the risk of mineralization defects in healthy children, possibly because of environmental contaminants that interfere with tooth development.

The aims of the present study were to provide data on growth changes in the dental arches from age 7 to 32 in Finns with untreated normal Angle Class I occlusions. The material consisted of 33 series of dental casts of 18 women and 15 men. The subjects had been examined and study models taken at the ages of 7, 10, 12, 15, and 32. Dental arch width, overbite, and overjet were measured. Our longitudinal findings show that both the dental arches of young adults are slightly narrowed from adolescence to 32 years of age. All increases in width dimensions took place before 15 years of age. The means of the changes were mostly small, in the order of 0.5 to a few millimetres. Variability in age changes was considerable. In both genders, each variable increased in some subjects and decreased in others during every age interval. Differences between growth changes in the mesial, distal, and gingival intermolar widths indicate that both the maxillary and the mandibular first molars rotate mesiolingually and that the maxillary first molars also become more upright during late occlusal development. We expect the present findings of the changes occurring in the arch dimensions of subjects with untreated normal occlusions to help clinicians in following up occlusal development, choosing an optimal treatment time, and making orthodontic treatment and retention plans. However, because of the wide variability, accurate prediction of future development cannot be made on the individual level.

Rapid infantile growth was the first clinical sign in patients (n = 51) with aspartylglycosaminuria, a lysosomal storage disorder. Even if young children with aspartylglycosaminuria were tall for their age, an early but weak pubertal growth spurt in both sexes resulted in reduced adult heights.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disease exceptionally common in Finland. It is associated with a limited T lymphocyte defect, an autoimmune response to various tissues, particularly endocrine glands. Most patients have chronic oral candidosis, which has been suggested to be carcinogenic. In Finland 92 patients have been diagnosed with APECED and 66 of them are alive. Our aim was to study the possible association of APECED with oral and oesophageal carcinoma. We evaluated the medical histories of all 92 patients for morbidity, causes of death, and known risk factors for oral cancer. We invited all current patients for a clinical examination of their oral mucosa. Six of the 92 had developed oral or oesophageal squamous cell carcinoma (SCC) by the mean age of 37 (29-44years) and four of them had died from it. The six represent 10% of the patients older than 25years. Five of the six patients had long-lasting oral candidosis. Four of the six had smoked regularly for 15years or more. One patient had been on immunosuppressive therapy for 6years following kidney transplantation when SCC in her mouth occurred. The partial T cell defect of APECED seems to favour the growth of Candida albicans and predispose to chronic mucositis and SCC. Aggressive control of oral candidosis and close follow-up of oral mucosa is a necessity in patients with APECED.

Abnormalities of the short arm of chromosome 4 cause multiple congenital malformations, including craniofacial, oral, and dental manifestations. A candidate gene for oral defects in this region is MSX1, which is mandatory for normal oral and tooth development. We examined the dentition and the presence of MSX1 in eight Finnish patients with abnormalities of 4p, including seven cases of Wolf-Hirschhorn syndrome. Five of the Wolf-Hirschhorn syndrome patients presented with agenesis of several teeth, suggesting that oligodontia may be a common (even though previously not well-documented) feature in Wolf-Hirschhorn syndrome. In fluorescence in situ hybridization (FISH) analysis, the five patients with oligodontia lacked one copy of MSX1, while the other three had two hybridization signals. One of these presented with the only case of cleft palate among the patients. Our result confirms that haploinsufficiency for MSX1 serves as a mechanism that causes selective tooth agenesis but, alone, is not enough to cause oral clefts.

Nonsyndromic tooth agenesis is a genetically and phenotypically heterogenous condition. It is generally assumed that different phenotypic forms are caused by different mutated genes. We analyzed inheritance and phenotype of hypodontia and dental anomalies in 214 family members in three generations of 11 probands collected for genetic linkage study on incisor-premolar hypodontia (IPH). Our analysis confirms the autosomal-dominant transmission with reduced penetrance of IPH. The prevalence of hypodontia and/or peg-shaped teeth was over 40% in first-and second-degree relatives and 18% in first cousins of the probands. Four of nine noted obligate carriers of hypodontia gene had dental anomalies, including small upper lateral incisors, ectopic canines, taurodontism, and rotated premolars. These anomalies were also observed at higher than normal frequency in relatives affected with hypodontia. We conclude that incisor-premolar hypodontia is a genetic condition with autosomal-dominant transmission and that it is associated with several other dental abnormalities.

Fragile X (FraX) syndrome is the most common cause of inherited mental retardation. The FraX gene (FMR1) has been cloned, and the mutation causing the disease is now known. We estimated the effect of FraX on dental development in 28 affected boys (aged 4.9-17.6 years) and three carrier girls (aged 5.8, 10.4, and 12.7 years). Dental maturity, assessed on the basis of formation [Demirjian A, Goldstein H. 1976: Ann Hum Biol 3:411-421] and of emergence [Hagg U, Taranger J. 1985: Angle Orthod 55:93-107], was compared with growth in stature and skeletal maturity. The mean relative dental age was advanced in FraX males, based on formation (+1.4 SD) and on emergence (+1.1 SD). More pronounced advancement was seen in younger children. Dental maturity was advanced in heterozygous carrier girls as well. Height and skeletal maturity did not show a similar trend toward advanced development.

Holding a violin between shoulder and chin needs a special kind of muscle function. The purpose of this investigation was to determine whether this kind of muscular activity is a modifying factor for facial growth in adolescence. The bony facial dimensions of 24 adolescent violin students attending colleges of music with a playing history of 5-11 years were measured from lateral and posteroanterior cephalograms and panoramic tomograms of the jaws. The dimensions were compared with those of sex- and age-matched controls. Significant differences were found between violin players and controls. The players had higher faces, especially on the right side of the lower face and in the right mandibular ramus. The players also had more proclined upper and lower incisors than the controls. It is concluded that the overall greater facial height in violinists reflects the increased face muscle activity and the higher bony dimensions of the right side of the face are due to the muscular activity produced on that side to balance the load caused by the violin on the left. The greater proclination of the incisors is the result of an altered balance of muscular activity between tongue and lip, and the pressure of the violin to the chin.

Professional violin and viola playing involves a particular kind of asymmetric face, neck and shoulder muscle activity. The aim of this study was to find out whether players' facial morphology is influenced by this occupational orofacial muscle activity. Lateral and posteroanterior cephalograms and panoramic tomograms of 26 adult professional violin and viola players were evaluated and compared with those of age, sex and dentition matched controls. Significant differences were found between the players and the controls. The players had smaller facial heights, more proclined maxillary incisors and greater mandibular lengths. Thus, intense long-term violin/viola playing has the effect of modifying facial morphology.

The palatally displaced canine is a harmful complication of dental development. It appears in 1 to 2% of the Western population. According to our clinical experience, this anomaly is seen in families in which missing and peg-shaped teeth are common. It could be caused by the same genetic component that causes incisor-premolar hypodontia. We examined 106 patients who had been operated on and treated orthodontically for palatally impacted canine(s). The patients and their family members were examined for dental anomalies. One hundred and ten first- and 93 second-degree relatives were clinically and radiologically examined, and 35 pedigrees were constructed. Thirty-six percent of the patients had congenitally missing permanent teeth (hypodontia), which is 4.5 times the population prevalence. Hypodontia was noted in 19 to 20% of both the first- and second-degree relatives. This is 2.5 times the population prevalence. Frequency of missing teeth, analyzed by tooth groups, was of the same order as that shown for incisor-premolar hypodontia in the Western population. In six of the 35 pedigrees, a palatally impacted canine was noted in several generations of the same family. Prevalence of this anomaly was 4.9% in the studied group, which is 2.5 times the population prevalence. From the findings, we conclude that the palatally displaced canine belongs to the spectrum of dental abnormalities related to hypodontia.

This paper presents an updated review of the role of endocrine factors in craniofacial and dental development. Some unpublished results of the author's own studies are presented. Longitudinal growth studies have shown the similarity of facial and somatic growth rates, whereas dental development has been found to be independent. The increased therapeutic use of the growth hormone (GH) has focused attention on the dental and craniofacial effects of GH. Whereas delayed and advanced cranial base and facial growth is obvious in conditions with either lack or excess of GH, the effect of GH on the dentition is less clear. Thyroid hormones seem to be necessary for the eruptive movement of teeth. Sex steroids clearly have an effect on facial and cranial base growth and are also odontogenic, but the effects have not been much studied. The growth-inhibiting effect of corticosteroids is explained partly by the reduced response of cartilage cells to insulin-like growth factor-1. Experimentally, the effect is also seen in the condylar cartilage, but clinical studies have not been published. In tooth eruption an accelerating effect has been noted in experimental animals. The role of androgenic hormones in mandibular growth stimulation is discussed.

Editor—Hypodontia, congenitally missing teeth, is common in modern man. The teeth most often missing in populations of European origin are the upper lateral incisors and second premolars. The condition is known to have a strong genetic component. At present two mutated genes in humans, MSX1 1 and PAX9 ,2 are known to cause missing permanent teeth. Mutations in MSX1 can also cause orofacial clefting.3 Several experimental and clinical studies indicate that other genetic components are also involved.4-8 Hypodontia is also often seen in syndromes, particularly in those which present with other ectodermal anomalies,9 and in non-syndromic patients with cleft lip/alveolus with or without cleft palate. The population prevalence of the common incisor-premolar hypodontia (IPH, MIM 106600) is 8-10% in healthy European children. Some or all third molar teeth are missing in one-fifth of the population,10 and missing third molars are seen in varying combinations in IPH patients and/or family members.11Family studies also indicate that peg shaped upper lateral incisors, impacted canines, rotated bicuspids, and short root anomaly (SRA) are caused by the same genetic components that cause missing incisors and premolars.12-15 The condition is inherited as an autosomal dominant trait16 with reduced penetrance and is mostly restricted to the permanent dentition. When a large number of teeth (>6) are congenitally missing, the term used is oligodontia (MIM 6044625). The prevalence of oligodontia in European populations is estimated at 0.08%,17 but this figure also includes syndromic patients. We describe 37 Finnish patients from 34 families with several lower incisors and upper lateral permanent incisors congenitally missing. In half of the patients, the corresponding deciduous teeth had either been missing or peg shaped. An atopic condition had been diagnosed in two thirds of the patients. Occurrence of the trait within …