Search

We determined differences in the expression of certain virulence factors between oral Candida dubliniensis and Candida albicans species. In addition, clonal differences were sought among C. albicans isolates recovered from patients with and without compromised immune system. The material comprised 93 clinical yeast isolates originated in 40 subjects (1-5 isolates per subject). All 26 C. dubliniensis isolates and 46 C. albicans isolates originated from healthy routine dental clinic patients. Additionally, 21 C. albicans isolates were collected from patients with autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED), who have chronic candidosis as one manifestation of their immunocompromising disease. Polymerase chain reaction amplification using the random sequence primer OPE-03 enabled grouping of the C. dubliniensis isolates in 2 genotypes (I and II) and C. albicans isolates in 15 genotypes (I-XV). No significant difference was found in the distribution of genotypes between the patients with APECED and the healthy subjects. C. dubliniensis isolates exhibited high-frequency phenotypic switching significantly more frequently than did C. albicans isolates, and vice versa regarding phospholipase and proteinase production. Proteinase production was significantly more frequent among C. albicans genotype V than genotype IX isolates. No significant difference was found in expression of virulence factors of C. albicans isolates between the patients with... [ABSTRACT FROM AUTHOR]

Failure to develop complete dentition, tooth agenesis, is a common developmental anomaly manifested most often as isolated but also as associated with many developmental syndromes. It typically affects third molars or one or few other permanent teeth but severe agenesis is also relatively prevalent. Here we report mutational analyses of seven candidate genes in a cohort of 127 probands with non-syndromic tooth agenesis. 82 lacked more than five permanent teeth excluding third molars, called as oligodontia. We identified 28 mutations, 17 of which were novel. Together with our previous reports, we have identified two mutations in MSX1, AXIN2 and EDARADD, five in PAX9, four in EDA and EDAR, and nine in WNT10A. They were observed in 58 probands (44%), with a mean number of missing teeth of 11.7 (range 4 to 34). Almost all of these probands had severe agenesis. Only few of the probands but several relatives with heterozygous genotypes of WNT10A or EDAR conformed to the common type of non-syndromic tooth agenesis, incisor-premolar hypodontia. Mutations in MSX1 and PAX9 affected predominantly posterior teeth, whereas both deciduous and permanent incisors were especially sensitive to mutations in EDA and EDAR. Many mutations in EDAR, EDARADD and WNT10A were present in several families. Biallelic or heterozygous genotypes of WNT10A were observed in 32 and hemizygous or heterozygous genotypes of EDA, EDAR or EDARADD in 22 probands. An EDARADD variant were in seven probands present together with variants in EDAR or WNT10A, suggesting combined phenotypic effects of alleles in distinct genes.

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.

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., (Copyright 2009 Wiley-Liss, Inc.)

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.

Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregate with dominant inheritance. Eleven members of the family lacked at least eight permanent teeth, two of whom developed only three permanent teeth. Colorectal cancer or precancerous lesions of variable types were found in eight of the patients with oligodontia. We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2. In addition, we identified a de novo frameshift mutation 1994-1995insG in AXIN2 in an unrelated young patient with severe tooth agenesis. Both mutations are expected to activate Wnt signaling. The results provide the first evidence of the importance of Wnt signaling for the development of dentition in humans and suggest that an intricate control of Wnt-signal activity is necessary for normal tooth development, since both inhibition and stimulation of Wnt signaling may lead to tooth agenesis. Our findings introduce a new gene for hereditary colorectal cancer and suggest that tooth agenesis may be an indicator of cancer susceptibility.

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.

Mutations in PAX9 have been described for families in which inherited oligodontia characteristically involves permanent molars. Our study analysed one large family with dominantly inherited oligodontia clinically and genetically. In addition to permanent molars, some teeth were congenitally missing in the premolar, canine, and incisor regions. Measurements of tooth size revealed the reduced size of the proband's and his father's deciduous and permanent teeth. This phenotype is distinct from oligodontia phenotypes associated with mutations in PAX9. Sequencing of the PAX9 gene revealed a missense mutation in the beginning of the paired domain of the molecule, an arginine-to-tryptophan amino-acid change occurring in a position absolutely conserved in all sequenced paired box genes. A mutation of the homologous arginine of PAX6 has been shown to affect the target DNA specificity of PAX6. We suggest that a similar mechanism explains these distinct oligodontia phenotypes.

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%.

Development of dentition is controlled by numerous genes, as has been shown by experimental animal studies and mutations that have been identified by genetic studies in man. Here we report a nonsense mutation in the PAX9 gene that is associated with molar tooth agenesis in a Finnish family. The A340T transversion creates a stop codon at lysine 114, and truncates the coded PAX9 protein at the end of the DNA-binding paired-box. All the affected members of the family were heterozygous for the mutation. The tooth agenesis phenotype involves all permanent second and third molars and most of the first molars and resembles the earlier reported phenotype that was also associated with a PAX9 mutation. The phenotype is presumably a consequence of haploinsufficiency of PAX9. In another Finnish family with molar tooth agenesis, we could not find similar sequence changes in PAX9.

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.

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.

Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by deficiency of aspartylglucosaminidase (AGA). The main symptom is progressive mental retardation. A spectrum of different mutations has been reported in this disease, one missense mutation (Cys163Ser) being responsible for the majority of Finnish cases. We were able to examine 66 Finnish AGU patients for changes in the oral mucosa and 44 of these for changes in facial skin. Biopsy specimens of 16 oral lesions, 12 of them associated with the teeth, plus two facial lesions were studied histologically. Immunohistochemical staining for AGA was performed on 15 oral specimens. Skin was seborrhoeic in adolescent and adult patients, with erythema of the facial skin already common in childhood. Of 44 patients, nine (20%) had facial angiofibromas, tumours primarily occurring in association with tuberous sclerosis. Oedemic buccal mucosa (leucoedema) and gingival overgrowths were more frequent in AGU patients than in controls (p<0.001). Of 16 oral mucosal lesions studied histologically, 15 represented fibroepithelial or epithelial hyperplasias and were reactive in nature. Cytoplasmic vacuolisation was evident in four. Immunohistochemically, expression of AGA in AGU patients' mucosal lesions did not differ from that seen in corresponding lesions of normal subjects. Thus, the high frequency of mucosal overgrowth in AGU patients does not appear to be directly associated with lysosomal storage or with alterations in the level of AGA expression.

Many craniofacial and dental anomalies have a genetic background. Much research related to the molecular pathology of genetic conditions is being carried out, and new information related to mapping of disease genes, gene identification, and mutations in these genes is accumulating with incredible speed. It is important to be well informed of the molecular background of the conditions that we treat at anomaly clinics. This article reviews the most recent molecular findings related to Turner syndrome, Beckwith-Wiedemann syndrome, Marfan syndrome, Treacher Collins syndrome, cleidocranial dysplasia, and cleft lip and palate.

Objective: 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., Study Design: 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., Results: 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., Conclusions: 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.

Diastrophic dysplasia (DTD) is a recessively inherited form of osteochondrodysplasia, presenting with disproportionate short stature and multiple orthopedic problems. The clinical oral manifestations include either cleft palate or submucous cleft palate in at least half of the patients. Histological studies have shown alterations in growth plate, articular, laryngeal, tracheal, and ear cartilages. Mutations in the DTDST gene, which codes for the sulphate transporter membrane protein, are responsible for the disease. Thirty-three patients were studied for speech characteristics and their correlation with cephalometric dimensions. Hyponasality was observed in 13 and misarticulation of /R/, /S/, or /L/ sounds in 17 of the 33 patients. Neither of these correlated with the occurrence of palatal deformities. Hyponasality was atypical and did not correlate with the obtained nasalance scores. Cephalometric measurements reflecting the size of the orofacial area of the vocal tract were short in the DTD patients compared with those in the healthy controls. The specific speech characteristics in DTD probably result from both the altered size and shape of the vocal tract and the structural and functional abnormalities of the laryngeal and tracheal cartilages.

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.

Diastrophic dysplasia (DTD) is a well-characterized, recessively inherited osteochondrodysplasia. Thirty-seven patients were studied for transverse craniofacial characteristics. Of these patients, 10 had cleft palate and 11 had submucous cleft palate. A cephalometric analysis based on posteroanterior (PA) cephalograms was performed: 16 landmarks were identified and digitized into a computer. Seven linear and four angular variables were calculated and the values compared with those of a matched control population. DTD patients differed from controls only in cases with cleft palate where the mesio-orbital, bigonial, and antegonial widths were large compared with controls. The present findings indicate that although the development and growth of cartilaginous structures are disturbed in DTD, the intramembranously developing bones and the appositional growth pattern do not seem to be primarily affected.

Aspartylglucosaminuria (AGU) is a lysosomal storage disorder with progressive mental retardation as a presenting manifestation. The disorder is caused by a single nucleotide change in the gene encoding aspartylglucosaminidase (AGA). This rare disease is relatively common in Finland: we were able to examine 81 Finnish AGU-patients for dental and oral changes. Tooth crown size and crown shape were normal, but dental malocclusions were common, and prevalences of spacing, large overjet, anterior open bite, and lateral crossbite exceeded Finnish population prevalences (P < 0.0001). Dental arches were already large in childhood, and in adult patients, when compared to Finnish population standards, the lower dental arch was larger in all dimensions (P < 0.001). Almost all patients had abnormally large tongues, which we assumed to be the reason for the structural abnormalities observed.

Radiographic periodontal status and microbiological findings of periodontal pockets in subjects with Cohen syndrome are presented in this report. This hereditary disorder causes mental retardation, and neutropenia is one feature of the syndrome. Fifteen patients with Cohen syndrome and 15 controls matched for age and sex and, as far as possible, according to the degree of mental retardation were examined. Alveolar bone loss was evaluated from the panoramic radiographs. Two subgingival samples were obtained from the most affected anterior and posterior periodontal sites in each dentate subject and examined for the occurrence of Actinobacillus actinomycetemcomitans, Porphyromonas gingivalis, Prevotella intermedia/nigrescens, Peptostreptococcus micros, Bacteroides forsythus, and Campylobacter rectus. Subjects with Cohen syndrome had alveolar bone loss more frequently and the bone loss was more extensive (Mann-Whitney U-test: P < 0.05) than in the controls. They also harbored one or several of the putative periodontal pathogens (Mann-Whitney U-test: P < 0.001) more often than the controls. We conclude that subjects with Cohen syndrome have increased susceptibility to early periodontal breakdown which is likely to be associated with neutropenia.

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.

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.

Diastrophic dysplasia (DTD) is a well-characterized, recessively inherited osteochondrodysplasia. The gene, DTDST, in which mutations are responsible for the disease, codes for a sulphate transporter protein. We studied 53 patients with earlier diagnosed DTD for special characteristics in the oral region. Clinical examination included impressions of dental arches, oral photographs, and panoramic radiographs. Palatal clefting was recorded. Congenitally missing teeth were evaluated and dental maturity calculated from the panoramic radiographs. Tooth crown size and length and breadth of dental arches were measured from the casts. Dental anomalies and orthodontical status were evaluated from the casts and oral photographs. The level of oral hygiene was evaluated with caries (DMF) and periodontal (GBI) indices. Cleft palate was recorded in 56% and hypodontia (excluding third molars) in 31% of the patients. Dental age was retarded. Dental arches were narrow and tooth crown size was reduced. The observed crown size reduction could result from the same factors that cause cleft palate and/or hypodontia, or from a lack of sulfation in the developing dental papilla. The typical malocclusion traits were crowding, lateral crossbite, and open bite, which we assumed to result from reduced growth potential of the dental arches. Despite crowding and limited flexion of the finger joints leading to a severe handicap, the level of oral hygiene was high and no need for auxiliary equipment for cleaning the teeth was noted.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disease composed of failure of various endocrine glands, chronic mucocutaneous candidiasis, and an ectodermal dystrophy complex including hypoplasia of the dental enamel. To characterize the enamel defect further, we studied enamel microanatomy by light microscopy and scanning electron microscopy in clinically affected permanent teeth from three APECED patients. In all three cases, the enamel was partially hypoplastic and morphologically aberrant. Hypoplasia was evident as a horizontal band or as rows of pits. The incremental pattern in the abnormal enamel was obscure, and the prisms were either barely detectable or accentuated and disoriented. In scanning electron microscopy, imprints of the Tomes processes were seen on the enamel surface, but the perikymata were poorly contoured. The distribution pattern of the defective enamel corresponded to the sequence of tooth development and was suggestive of a transient insult. In the enamel affected with a hypoplastic pitted from of amelogenesis imperfecta, studied for comparison, only local hypoplastic defects were seen. Together with normal parathyroid function in one patient and normal calcification of dentin in one of the two patients with hypoparathyroidism, morphology of the enamel in APECED appears to preclude calcium deficiency as the primary cause of the enamel dystrophy.

Hypodontia, congenital lack of one or a few teeth, is an autosomally inherited dominant trait. Homeobox genes MSX1 and MSX2 are expressed in presumptive dental tissues at the stage of initiation of tooth development. Recently, tooth development was shown to be inhibited in transgenic mice lacking a functional Msx1 gene. Here, we studied the relationship of the MSX1 and MSX2 genes to familial hypodontia in five Finnish families with a total of 20 affected individuals, by linkage analysis. The pairwise lod-scores regarding the intragenic microsatellites in the MSX1 and MSX2 genes at a recombination fraction of 0.0 were -3.1 and -3.0, respectively, thus excluding these genes as causative loci for hypodontia in these families.

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.

We found significant differences in a craniometric, cephalometric, and dental study of 19 Silver-Russell syndrome patients (13 without growth hormone treatment) with appropriate controls. Although head circumference was normal for age, head length was increased, while cranial and facial widths and facial heights were reduced. Posterior facial height, posterior cranial base length, cranial base height, and mandibular body size were significantly smaller than in healthy children of the same height. Articulatory speech disorders were common. Enamel defects pointed to an early prenatal insult. Delayed dental age and small mandibular and cranial base dimensions support the possibility of physiological growth hormone deficiency in many Silver-Russell syndrome children; however, facial soft tissue structures were strikingly different from those observed in classical growth hormone deficiency.

We studied the role of growth hormone (GH) in craniofacial growth by analyzing the craniofacial structures in patients with either deficient or excessive GH. The cephalogrammes of 21 patients with isolated or combined GH deficiency and of two patients with GH excess were compared with cephalogrammes of age and sex matched controls, and the patients with deficient GH also with height and sex matched controls. In cephalometric measurements, skeletal anatomy was followed as closely as possible. All patients had a Class I or an end-to-end dental occlusion. Head circumference was normal in all patients. Facial widths were significantly smaller in patients with deficient GH but at the level of + 2 SDs in the two with GH excess when compared to Finnish norms. In patients with deficient GH, facial heights were significantly smaller than in age matched controls, but of the same order with height controls for anterior facial height. Posterior facial height was smaller even in this comparison. In patients with GH excess, facial heights were much larger and at the levels of +3 and +6 SD. Clivus was shorter in patients with deficient GH and longer (+ 1.9 and +3 SD) in the two with GH excess. All angulations of the sphenoidal plane deviated from those of the controls in the group with GH deficiency. The cranial base angle (CL-SPhen) was smaller than in controls while it was normal in patients with GH excess. We are inclined to interpret the craniofacial structure of those with deficient GH as being unique to the condition rather than merely negative allometry.(ABSTRACT TRUNCATED AT 250 WORDS)