The role of the dentist and the orthodontist in early diagnosis of Gorlin-Goltz syndrome: a cephalometric and photometric study.

AIM: The aim of this study was to analyse the facial characteristics and the craniofacial morphology in GGS patients in order to enable an early diagnosis. BACKGROUND: Gorlin-Goltz syndrome (GGS) is a autosomic dominant disease, characterised by basal cell carcinoma, palmar/plantar pits, maxillary and mandibular keratocysts and dental abnormalities. METHODS: Nine out of a sample of 24 GGS patients had complete cephalometric and photographic records at an average age of 8.7 years. Cephalometric and photometric analysis were carried out with standard analyses and compared with healthy patients matched for sex and age. CONCLUSION: Early diagnosis of GGS based on clinical features could be useful to identify the presence of keratocysts through x-ray examination proceeding with surgical removal at an early stage, limiting space occupying damages.

Nasoalveolar molding and skeletal development in patients with bilateral cleft lip and palate: A retrospective cephalometric study at the completion of growth.

The aim of this retrospective long-term study was to assess the influence of primary columella lengthening and presurgical nasoalveolar molding (NAM) on the skeletal development at the completion of growth in patients with bilateral cleft lip and palate (BCLP). Lateral cephalometric radiographs at the completion of growth of consecutively treated patients BCLP patients, operated by the same surgeon, who had undergone NAM were compared with a second group of BCLP patients who were not treated with NAM. The groups were matched for sex and age. Independent samples t tests were carried out. 23 Lateral cephalometric radiographs of BCLP patients (mean age 18.2 ± 1.3 years) who had undergone NAM were compared with a second group of 23 BCLP patients (mean age 18.4 ± 1.3 years) who were not treated with NAM. The only two significant differences were observed in Ans-Me/N-Me (control group = 0.6 ± 0.02; sample group = 0.57 ± 0.05; p = 0.019) and ILs^AnsPns (control group = 105.5 ± 7.9; sample group = 112.4 ± 8.6; p = 0.007). No other significant differences were observed in terms of facial skeletal development between the two groups. Presurgical NAM performed during infancy in BCLP patients does not seem to have negative effects on the skeletal development at the completion of craniofacial growth compared to the group of patients treated without NAM.

Non-surgical treatment of vertical excess of the premaxilla in growing bilateral cleft lip and palate patients.

Patients with bilateral complete cleft lip and palate (BCLP) may present a vertical excess of the premaxilla in childhood. This is a severe functional and aesthetic problem, where bone grafting is more challenging. The aim of this study was to describe a simple and reproducible non-surgical orthopaedic treatment for vertical excess of the premaxilla in the deciduous/early mixed dentition phase in BCLP patients. Six growing patients with complete BCLP with a severe vertical excess of the premaxilla were included. An intrusion device associated with a bonded rapid palatal expander was applied to intrude the premaxilla. Radiographic and photographic records obtained before and at the end of the orthodontic intrusion, at short- and long-term follow-up, were available. A flattening of the occlusal plane was achieved in all patients. Normalization of the position of the maxillary incisors and gingival display in relation to the upper lip was obtained, and an improvement in anterior nasal spine position was also observed in all cases. The novel technique described might be of assistance in treating BCLP children with vertical excess of the premaxilla during the deciduous/early mixed dentition phase. This simplified, easily reproducible method may allow the burden of care of this rare but complex problem affecting BCLP patients to be reduced significantly.

Maxillary shape at the end of puberty in operated unilateral cleft lip and palate: A geometric morphometric assessment using computer tomography.

INTRODUCTION: Cleft lip and palate (CLP) surgery interferes with maxillary growth and contributes to transversal and sagittal growth impairment. Our retrospective descriptive study aimed to evaluate maxillary bone shape in a homogenous unilateral CLP patient group using geometric morphometrics based on CT-scan data. MATERIAL AND METHODS: We included all patients with available CT-scans at the end of pubertal growth and operated on at Smile House of Milan, according to the standard protocol, involving two surgical steps: (1) primary closure of the lip and soft palate at 6 months of age and (2) early secondary gingivoalveoloplasty (GAP) associated with hard palate repair at 18-36 months. Shape differences between CLP and an age-matched control group were characterized using geometric morphometrics based on 15 3D landmarks. RESULTS: We included 16 unilateral CLP patients and 20 age-matched controls. Principal component and canonical variate analyses showed that the maxillary shape in CLP was significantly different from controls but that this difference was limited. Linear and angular measurements confirmed these differences. CONCLUSION: Early secondary GAP results in satisfactory maxillary shape, with significant but limited differences relative to controls.

Hemandibular hypoplasia successfully treated with functional appliances: is it truly hemifacial microsomia?

The literature contains a number of case reports on successful orthopedic treatment of hemifacial microsomia (HFM), with surprising changes in the morphology of the condyles. All of these reports regard patients who have substantially no soft tissue involvement but only severe mandibular ramus and condyle deformities. A number of cases with unexpectedly similar phenotypes diagnosed as HFM are described. The authors suggest that it is possible that all of these cases might be misdiagnosed traumatic injuries of the condyle, which present a normal functional matrix and, therefore, with growth and with the help of functional stimulation, tend to grow toward the original symmetry.

Osteoblast cytoskeletal modulation in response to mechanical strain in vitro.

The structural integrity of microfilaments has been shown to be necessary for the signal transduction of mechanical stimuli within osteoblasts. Qualitative and quantitative changes within the cytoskeleton of osteoblasts may therefore be crucial components of the signal transduction processes of these cells in response to mechanical stimulation. Avian osteoblasts were strained with a device that deforms a flexible, cell-laden membrane at a defined frequency and intensity in a uniform biaxial manner. We examined the effects of mechanical strain on the accumulation of protein and the expression of the major cytoskeletal elements and specific integrin-binding (arginine-glycine-aspartic acid) proteins of these cells. Mechanical strain increased the level of total extracellular matrix-accumulated fibronectin by approximately 150% and decreased that of osteopontin by approximately 60% but had no quantifiable effect on the accumulation of beta1 integrin subunit or collagen type I. An examination of the major elements of the cytoskeleton demonstrated that neither the level of actin nor that of the intermediate filament protein vimentin changed; however, the amount of tubulin decreased by approximately 75% and the amount of vinculin, a major protein of focal adhesion complexes, increased by approximately 250%. An analysis of protein synthesis by two-dimensional gel electrophoresis of [35S]methionine-labeled cytoskeletal proteins demonstrated that the changes in the accumulation of vinculin and tubulin resulted from their altered synthesis. Messenger RNA analysis confirmed that the changes in accumulation and protein synthesis observed for vinculin, fibronectin, and osteopontin were controlled at a pretranslational level. Immunofluorescent microscopy demonstrated that mechanical strain led to increased formation and thickening of actin stress fibers, with a commensurate dissociation in microtubules and a clear increase in levels of vinculin at the peripheral edges of the cells. In conclusion, the elevated rate of synthesis and the increased accumulation of vinculin and fibronectin, as well as the increase in the number and size of stress fibers and focal adhesion complexes, suggest that mechanical strain leads to a coordinated change both in the cytoskeleton and in extracellular matrix proteins that will facilitate tighter adhesion of an osteoblast to its extracellular matrix.

Developmental restriction of embryonic calvarial cell populations as characterized by their in vitro potential for chondrogenic differentiation.

The mechanism(s) by which the cells within the calvaria tissue are restricted into the osteogenic versus the chondrogenic lineage during intramembranous bone formation were examined. Cells were obtained from 12-day chicken embryo calvariae after tissue condensation, but before extensive osteogenic differentiation, and from 17-day embryo calvariae when osteogenesis is well progressed. Only cell populations from the younger embryos showed chondrogenic differentiation as characterized by the expression of collagen type II. The chondrocytes underwent a temporal progression of maturation and endochondral development, demonstrated by the expression of collagen type II B transcript and expression of collagen type X mRNA. Cell populations from both ages of embryos showed progressive osteogenic differentiation, based on the expression of osteopontin, bone sialoprotein, and osteocalcin mRNAs. Analysis using lineage markers for either chondrocytes or osteoblasts demonstrated that when the younger embryonic cultures were grown in conditions that were permissive for chondrogenesis, the number of chondrogenic cells increased from approximately 15 to approximately 50% of the population, while the number of osteogenic cells remained almost constant at approximately 35-40%. Pulse labeling of the cultures with BrdU showed selective labeling of the chondrogenic cells in comparison with the osteogenic cells. These data indicate that the developmental restriction of skeletal cells of the calvaria is not a result of positive selection for osteogenic differentiation but a negative selection against the progressive growth of chondrogenic cells in the absence of a permissive or inductive environment. These results further demonstrate that while extrinsic environmental factors can modulate the lineage progression of skeletal cells within the calvariae, there is a progressive restriction during embryogenesis in the number of cells within the calvaria with a chondrogenic potential. Finally, these data suggest that the loss of cells with chondrogenic potential from the calvaria may be related to the progressive limitation of the reparative capacity of the cranial bones.

Incidental finding of an enlarged sella turcica on a lateral cephalogram.

The lateral cephalogram is a film that is routinely used in orthodontics. Orthodontists should therefore be familiar with the normal radiographic appearance of the skull as seen on the lateral cephalogram. We present a case of an enlarged sella turcica that was discovered during routine orthodontic workup. Referral and further investigation led to a diagnosis of a prolactinoma.