Oral-Facial-Digital Syndrome Type 1: Oral Features in 12 Patients Submitted to Clinical and Radiographic Examination

Objective: To evaluate the oral features in individuals with oral-facial-digital syndrome type 1 (OFD 1), previously diagnosed by the Genetic Sector of the Hospital of Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP).Design: Twelve patients with OFD 1 were examined clinically and radiographically; their medical files were also evaluated.Results: Associated oral malformations were observed in all patients (100%). The most frequent findings were tongue hamartomas, multiple buccal frena, asymmetric lips, asymmetric tongue, and bilateral maxillary gingival swelling. Interestingly, atrophy of the maxillary midline frenum was also observed in all the individuals examined.Conclusions: Several extra and intraoral alterations were observed in patients with OFD 1. The authors suggest the inclusion of atrophy of the maxillary midline frenum as a commonly found characteristic of OFD 1.

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al. (2008); Am J Hum Genet 82:1368-1374]. Since then, we have identified 17 additional families with CHST3 mutations and we report here on a series of 24 patients in 23 families. The diagnostic hypothesis prior to molecular analysis had been: Larsen syndrome (15 families), humero-spinal dysostosis (four cases), chondrodysplasia with multiple dislocations (CDMD "Megarbane type"; two cases), Desbuquois syndrome (one case), and spondylo-epiphyseal dysplasia (one case). In spite of the different diagnostic labels, the clinical features in these patients were similar and included dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The most useful radiographic clues were the changes of the lumbar vertebrae. Twenty-four different CHST3 mutations were identified; 16 patients had homozygous mutations. We conclude that CHST3 deficiency presents at birth with congenital dislocations of knees, hips, and elbows, and is often diagnosed initially as Larsen syndrome, humero-spinal dysostosis, or chondrodysplasia with dislocations. The incidence of CHST3 deficiency seems to be higher than assumed so far. The clinical and radiographic pattern (joint dislocations, vertebral changes, normal carpal age, lack of facial flattening, and recessive inheritance) is characteristic and distinguishes CHST3 deficiency from other disorders with congenital dislocations such as filamin B-associated dominant Larsen syndrome and Desbuquois syndrome.

Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder.

We report on a consanguineous Arab family in which three sibs had an unusual skeletal dysplasia characterized by anterior defects of the spine leading to severe lumbar kyphosis and marked brachydactyly with cone epiphyses. The clinical phenotype also included dysmorphic facial features, epilepsy, and developmental delay. This constellation likely represents a previously undescribed skeletal dysplasia, most probably inherited in an autosomal recessive pattern. A homozygosity mapping approach has thus far failed to unearth the responsible gene as the region shared by these three sibs is 27.7 Mb in size and contains over 200 genes with no obvious candidate.

Idiopathic chiasmal neuritis: clinical features and prognosis.

OBJECTIVES: To describe the clinical features of idiopathic chiasmal neuritis in a large cohort of patients and to report their visual and neurologic outcomes. DESIGN: A retrospective medical record review of consecutive patients with chiasmal neuritis at a single institution. Patients with clinical or radiographic evidence of inflammation involving the intraorbital optic nerve and patients with a systemic inflammatory or neoplastic disorder were excluded. RESULTS: Twenty patients were identified (14 female, 6 male; mean age, 37 years). Visual acuity at initial examination ranged from 20/15 to light perception. Progressive visual loss beyond 1 month was documented in 1 patient. Twelve of 15 patients who underwent magnetic resonance imaging demonstrated chiasmal enlargement and/or enhancement; 6 patients had 1 or more white matter lesions. Follow-up time ranged from 2 weeks to 22 years, with a mean of 5.7 years. The final median visual acuity was 20/20 (range, 20/15-20/50) and visual fields were normal or improved. Of 15 patients with a minimum follow-up interval of 1 year, 6 developed multiple sclerosis. CONCLUSIONS: The demographic and clinical features of idiopathic chiasmal neuritis resemble those of idiopathic optic neuritis. Visual prognosis is excellent. In this series, 40% of patients subsequently developed multiple sclerosis.

Osteology and radiographic anatomy of the hind limbs in Marshdeer (Blastocerus dichotomus)

Abstract: The knowledge of anatomical structures found in wild animals is important for the practice of medical and surgical clinic. Thus, the aim of this study was to describe the osteology and radiographic anatomy of the femur, patella, tibia, fibula, tarsal, metatarsal and phalanges of the Marshdeer Blastocerus dichotomus as a reference for clinical use and species identification. Most structures were similar to those found in domestic animals, with special features of this species. Noteworthy is, for example, the absence of the third trochanter of the femur. Although a ruminant, the Marshdeer has a fibuyla similar to the one described for the horse. B. dichotomus has four fingers on each limb, formed through three phalanges, only the third and fourth finger touch the ground, and the second and fifth finger is rudimentary. It has four proximal and two distal sesamoid bones, and sesamoid bones near the gastrocnemius muscle do not exist.

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features

Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene.

Dens invaginatus type III: report of a case and 10-year radiographic follow-up

Aim the purpose of this article is to report the 10-year follow-up of a right mandibular central incisor with 'dens invaginatus' that was root filled.Summary 'Dens invaginatus ' is a rare malformation of teeth, probably resulting from an infolding of the dental papilla during tooth development. It has alternatively been called 'dens in dente' and 'dilated composite odontome'. Radiographic examination may clearly demonstrate this feature, although no signs may be recognized clinically. If no entrance to the invagination can be detected and there are no signs of pulp pathosis, then no treatment is required other than fissure sealing of the invagination. In deep invaginations, it is likely that root-canal treatment may be required. Occasionally, when the tooth has an immature root, apexification is necessary. Root-canal treatment of a right mandibular central incisor with 'dens invaginatus ' is described along with 10-year follow-up.Key learning pointsBoth clinical and radiographic examinations are necessary to determine morphological features of teeth before root-canal treatment.Sensibility testing to determine the pulp condition is critical prior to treatment.

Clinical, radiographic, biochemical and histological findings of florid cemento-osseous dysplasia and report of a case

A displasia cemento-óssea florida tem sido descrita como uma condição que afeta tipicamente os maxilares de mulheres negras de meia idade. Ela geralmente se manifesta como múltiplas massas radiopacas semelhantes ao cemento distribuídas nos maxilares. Esta condição também tem sido classificada por vários autores como cementoma gigantiforme, osteomielite esclerosante crônica, osteíte esclerosante e massas de cemento escleróticas. Os autores apresentam um caso de displasia cemento-óssea florida não complicada em uma mulher negra de 48 anos de idade. Múltiplas massas escleróticas com bordas radiolúcidas na mandíbula foram identificadas radiograficamente. Os achados histopatológicos revelaram formação de massas escleróticas densas calcificadas semelhantes ao cemento. Todos os aspectos clínicos, radiográficos, bioquímicos e histológicos foram sugestivos do diagnóstico de displasia cemento-óssea florida.

Cleidocranial dysplasia: importance of radiographic images in diagnosis of the condition.

Cleidocranial dysplasia (CCD) is a rare syndrome usually caused by an autosomal dominant gene, although 40% of cases of CCD appear spontaneously with no apparent genetic cause. This condition is characterized by several cranial malformations and underdevelopment, absence of the clavicles, and multiple supernumerary and impacted permanent teeth. The diagnosis of this condition is usually based on the presence of the main features (supernumerary teeth, partial or total absence of one or both the clavicles, and bony malformations) and on clinical and familial evidence. The bony and dental features of CCD may be visualized on radiographic images of the face and skull. Here, we present a familial case of CCD and discuss the importance of dental radiographs in diagnosis of the condition.

Cherubism: clinicoradiographic features and treatment

Cherubism is a congenital childhood disease of autosomal dominant inheritance. This disease is characterized by painless bilateral enlargement of the jaws, in which bone is replaced with fibrous tissue. The condition has sui generis clinical, radiographic and histological features, of which the clinician should be aware for a better differential diagnosis in the presence of a fibro-osseous lesion affecting the bones of the maxillomandibular complex. The purpose of present paper was to review the literature and to report the most important aspects of cherubism in order to facilitate the study of this disease. Literature was reviewed about cherubism, emphasizing the relevant clinicoradiographic features and treatment. Literature was selected through a search of PubMed and Scielo electronic databases. The keywords used for search were adolescent, cherubism, cherubism/physiopathology, cherubism/treatment, cherubism/radiography. A manual search of the reference lists of the identified articles and the authors' article files and recent reviews was conducted to identify additional publications. Those studies that described new features about cherubism were included in this review. In total 44 literature sources were obtained and reviewed. Studies that described new features about cherubism physiopathology, diagnostics and treatment were reviewed. Despite the exceptions, cherubism is a clinically well-characterized disease. In cases of a suspicion of cherubism, radiographic examination is essential since the clinical presentation, the location and distribution of the lesions may define the diagnosis. Histopathological examination is complementary. Nowadays, genetic tests should be used for final diagnosis of cherubism.

Radiographic technique and anatomy of the equine sacroiliac region

Radiography is part of evaluating horses with poor performance and pelvic limb lameness; however, the radiographic appearance of the sacroiliac region is poorly described. The goal of the present study was to describe the use of a simple technique to obtain radiographs of the sacroiliac region in the anesthetized horse and to describe the radiographic appearance of this region. Seventy-nine horses underwent radiography of the pelvis under general anesthesia in dorsal recumbency. During a 5s exposure time the horse was actively ventilated to blur the abdominal viscera, which allowed assessment of individual bone structures in 77 horses. A large variation in the shape of the sacral wings, their articulation with the transverse processes of L6, and the relation of the sacrum to the ilium were observed. Females had significantly narrower width of the sacral wings. Broad sacral wings and bony proliferations at the caudal aspect were commonly observed features and their size was highly correlated with gender. In males, caudal osteophytes were significantly larger than in females. Five horses had transitional or hemitransitional vertebrae. Radiography with the ventilation-induced blurring technique is a simple approach that results in diagnostic quality radiographs and delineation of the highly variable bone structures of the sacroiliac region.

Location and dimensions of the mental foramen: a radiographic analysis by using cone-beam computed tomography

INTRODUCTION The mental foramen (MF) is an important landmark in dentistry. Knowledge of its position is central to perform block anesthesia of the mental nerve or to avoid nerve damage during surgical procedures in the premolar area of the mandible. The present radiographic study aimed at evaluating the location and dimension of the MF and measuring distances to neighboring structures by using limited cone-beam computed tomography (CBCT). METHODS Sagittal, axial, and coronal CBCT images of 142 patients (26 bilateral and 116 unilateral cases) were retrospectively screened to determine the location of the MF with respect to adjacent teeth and to take linear measurements of the size of the MF and its distances to the upper and lower borders of the mandible. In addition, the course and angulation of the mental canal exiting the MF were assessed. RESULTS The majority of MF (56%) were located apically between the 2 premolars, and another 35.7% of MF were positioned below the second premolar. On average, the MF was localized 5.0 mm from the closest root of the adjacent tooth (range, 0.3-9.8 mm). The mean size of the MF showed a height of 3.0 mm and a length of 3.2 mm; however, individual cases showed large differences in height (1.8-5.1 mm) and in length (1.8-5.5 mm). All mental canals exiting the MF demonstrated an upward course in the coronal plane, with 70.1% of the mental canal presenting an anterior loop (AL) in the axial view. The mean extension of AL in cases with an AL was 2.3 mm. CONCLUSIONS This study is consistent with previous radiographic studies regarding size and location of MF and distances between MF and adjacent anatomic structures. The assessed bilateral cases showed a high intraindividual concordance for certain features when comparing right and left sides.

Tubular Variant Of Basal Cell Adenoma Shares Immunophenotypical Features With Normal Intercalated Ducts And Is Closely Related To Intercalated Duct Lesions Of Salivary Gland.

The morphological criteria for identification of intercalated duct lesions (IDLs) of salivary glands have been defined recently. It has been hypothesised that IDL could be a precursor of basal cell adenoma (BCA). BCAs show a variety of histological patterns, and the tubular variant is the one that presents the strongest resemblance with IDLs. The aim of this study was to analyse the morphological and immunohistochemical profiles of IDLs and BCAs classified into tubular and non-tubular subtypes, to determine whether or not IDL and tubular BCA represent distinct entities. Eight IDLs, nine tubular BCAs and 19 non-tubular BCAs were studied. All tubular BCAs contained IDL-like areas, which represented 20-70% of the tumour. In non-tubular BCA, IDL-like areas were occasional and small (<5%). One patient presented IDLs, tubular BCAs and IDL/tubular BCA combined lesions. Luminal ductal cells of IDLs and tubular BCAs exhibited positivity for CK7, lysozyme, S100 and DOG1. In the non-tubular BCA group, few luminal cells exhibited such an immunoprofile; they were mainly CK14-positive. Basal/myoepithelial cells of IDLs, tubular BCAs and non-tubular BCAs were positive for CK14, calponin, α-SMA and p63; they were more numerous in BCA lesions. IDL, tubular BCA and non-tubular BCA form a continuum of lesions in which IDLs are related closely to tubular BCA. In both, the immunoprofile of luminal and myoepithelial cells recapitulates the normal intercalated duct. The difference between the adenoma-like subset of IDLs and tubular BCA rests mainly on the larger numbers of myoepithelial cells in the latter. Our findings indicate that at least some BCAs can arise via IDLs.

[demographic And Clinical Features Of Patients With Rheumatoid Arthritis In Piauí, Brazil--evaluation Of 98 Patients].

Brazilian epidemiological studies on rheumatoid arthritis are scarce, mainly in the northeast; thus many data currently available originate from the international literature. To describe demographic, clinical and serological characteristics of patients with rheumatoid arthritis (RA) followed-up by the same physician, in state of Piauí, Brazil. Data were collected between August 2010 and March 2013, in three health services of Piauí that provided health care in Rheumatology: a university-affiliated hospital, a public outpatient clinic and a private clinic. The numbers represent mean ± SD or percentage: 47.5±11.03 years-old non-Caucasian woman, non-smoker (59.2%), low educational level, mean disease duration of 7.7 years ± 7.6, and major extra-articular manifestations were rheumatoid nodules (19.4%) and sicca syndrome (46.9%). Features of rheumatoid arthritis obtained in this study are similar to those found in some national and international studies, but we observed higher female preponderance and illiteracy rate, in addition to a moderately severe erosive disease on average, with frequent sicca and other extra-articular manifestations.

Laser Printer Attribution: Exploring New Features And Beyond.

With a huge amount of printed documents nowadays, identifying their source is useful for criminal investigations and also to authenticate digital copies of a document. In this paper, we propose novel techniques for laser printer attribution. Our solutions do not need very high resolution scanning of the investigated document and explore the multidirectional, multiscale and low-level gradient texture patterns yielded by printing devices. The main contributions of this work are: (1) the description of printed areas using multidirectional and multiscale co-occurring texture patterns; (2) description of texture on low-level gradient areas by a convolution texture gradient filter that emphasizes textures in specific transition areas and (3) the analysis of printer patterns in segments of interest, which we call frames, instead of whole documents or only printed letters. We show by experiments in a well documented dataset that the proposed methods outperform techniques described in the literature and present near-perfect classification accuracy being very promising for deployment in real-world forensic investigations.