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Sample records for cleidocranial dysplasia patients

  1. Familial Cleidocranial Dysplasia

    PubMed Central

    Jindal, MK; Maheshwari, Sandhya

    2010-01-01

    Cleidocranial dysplasia or mutational dysostosis or cleidocranial dysostosis is a generalized skeletodental dysplastic disorder, inherited in an autosomal dominant pattern. The expression of this disorder can vary widely in severity, even within the same family. This is a relatively rare disease and has no standard effective treatment option as of yet. Here we present a case report of affected mother and son with classical manifestations of the disease.

  2. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient.

    PubMed

    Lu, Hui; Zeng, Binghui; Yu, Dongsheng; Jing, Xiangyi; Hu, Bin; Zhao, Wei; Wang, Yiming

    2015-09-01

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes. PMID:26389062

  3. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

    PubMed Central

    Lu, Hui; Zeng, Binghui; Yu, Dongsheng; Jing, Xiangyi; Hu, Bin; Wang, Yiming

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes. PMID:26389062

  4. Broad Spectrum of Skeletal Malformation Complex in Patients with Cleidocranial Dysplasia Syndrome: Radiographic and Tomographic Study

    PubMed Central

    Al Kaissi, Ali; Ben Chehida, Farid; Kenis, Vladimir; Ganger, Rudolf; Radler, Christof; Hofstaetter, Jochen G.; Klaushofer, Klaus; Grill, Franz

    2013-01-01

    Purpose Cleidocranial dysplasia is an autosomal dominant disorder characterized by defective ossification of the intramembraneous ossification (primarily the clavicles, cranium, and pelvis), and it is caused by mutations in the RUNX2 gene that is responsible for osteoblast differentiation. Spine deformities were of progressive nature and considered to be the major orthopedic abnormalities encountered in our practice in patients with cleidocranial dysplasia. We aimed to further delineate the underlying spine pathology and its etiological understanding. Extraspinal deformities were dealt with respectively. Material and methods In this paper, we describe 7 patients who were consistent with the phenotypic and the genotypic characterization of cleidocranial dysplasia. Reformatted computed tomography (CT) scans have been applied in several instances to further understand the underlying pathology of progressive spine tilting. Radiographs were sufficient to illustrate other skeletal malformations. Results Anatomical survey demonstrates that a broad spectrum of frequently unrecognized orthopedic aberrations were encountered. We believe that torticollis has evolved in connection with the persistence of synchondrosis of the skull base and the upper cervical spine and these are strongly correlated to the well-known pathology of posterior occipital synchondrosis. Similarly, scoliosis and kyphoscoliosis resulted from the pathologic aberration of the cartilaginous stage of disrupted embryological development. All our results are discussed for the first time. Coxa vara, patellar dysplasia, and genu valgum were observed as extraspinal deformities. Conclusion This paper includes for the first time the anatomical analysis of the malformation complex of the craniocervical and the entire spine in patients with cleidocranial dysplasia. Reformatted CT scan was the modality of choice. We were able to illustrate that the persistence of skull base and the cervical spine synchondrosis were

  5. Orthodontic treatment of a patient with cleidocranial dysplasia: A case report

    PubMed Central

    Li, Zi-Jian; Wang, Jun-Yan; Gao, Ming-Fei; Wu, Da-Lei; Chang, Xin

    2016-01-01

    Cleidocranial dysplasia (CCD) is a rare autosomal dominant condition that affects ossification. The dental abnormalities associated with CCD present an obstacle to orthodontic treatment planning. Early diagnosis is crucial to provide the patient with different treatment modalities that will suit the particular patient. In the present case, combined surgical and orthodontic treatment were performed to guide multiple impacted teeth. A single nucleotide missense variation was identified in exon 3 of runt-related transcription factor 2 (RUNX2) in this patient. The current results suggest a correlation between dental alterations and mutations in the runt domain of RUNX2 in CCD patients. Further clinical and genetic studies may required to confirm the association between phenotypes and genotypes in CCD and to identify other factors that may influence the clinical features of this disease. Patients with cleidocranial dysplasia require a team approach which demands good communication and cooperation from the patient. Timing of the intervention is critical, and numerous surgeries may be required. The patient in the present case report was treated by a team of practitioners, which involved several dental specialties to achieve an optimal result. PMID:27446262

  6. Cranioplasty Using a Modified Split Calvarial Graft Technique in Cleidocranial Dysplasia.

    PubMed

    Jung, Young Taek; Cho, Jae Ik; Lee, Sang Pyung

    2015-07-01

    Cleidocranial dysplasia is a well-documented rare autosomal dominant skeletal dysplasia characterized by hypoplastic/aplastic clavicles, brachycephalic skull, patent sutures and fontanelles, midface hypoplasia, and abnormalities of dentition. Patients with cleidocranial dysplasia often complain about undesirable esthetic appearance of their forehead and skull. Notwithstanding many studies of molecular, genetics and skeletal abnormalities of this congenial disorder, there have been very few written reports of cranioplasty involving cleidocranial dysplasia. Thus, we report a rare case of successful cranioplasty using a modified split calvarial graft technique in patient with cleidocranial dysplasia. PMID:26279819

  7. Cranioplasty Using a Modified Split Calvarial Graft Technique in Cleidocranial Dysplasia

    PubMed Central

    Jung, Young Taek; Cho, Jae Ik

    2015-01-01

    Cleidocranial dysplasia is a well-documented rare autosomal dominant skeletal dysplasia characterized by hypoplastic/aplastic clavicles, brachycephalic skull, patent sutures and fontanelles, midface hypoplasia, and abnormalities of dentition. Patients with cleidocranial dysplasia often complain about undesirable esthetic appearance of their forehead and skull. Notwithstanding many studies of molecular, genetics and skeletal abnormalities of this congenial disorder, there have been very few written reports of cranioplasty involving cleidocranial dysplasia. Thus, we report a rare case of successful cranioplasty using a modified split calvarial graft technique in patient with cleidocranial dysplasia. PMID:26279819

  8. Cleidocranial dysplasia: A report of two cases with brief review

    PubMed Central

    Bharti, Kusum; Goswami, Mridula

    2016-01-01

    Summary Cleidocranial dysplasia (CCD) is a genetic disorder primarily causing dysplasia of bones and teeth with autosomal dominant inheritance pattern. Affected individuals presented with several skeletal and dental abnormalities mainly hypoplasia of clavicles, open fontanelles, short stature, retention of primary teeth, supernumerary teeth, delayed eruption of permanent teeth, multiple impacted permanent teeth etc. The present series of two cases illustrates the clinical and radiological features of pediatric patients with cleidocranial dysplasia. The early diagnosis of the condition helps in proper orientation of the treatment thereby offering better quality of life to such patients. PMID:27195196

  9. Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern

    PubMed Central

    Bhargava, P; Khan, S; Sharma, R; Bhargava, S

    2014-01-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular hypoplasia, retarded cranial ossification, delayed bone and teeth development, supernumerary teeth, stomatognathic, craniofacial and skeletal abnormalities. This paper presents a case of CCD in a female with brachycephalic skull, depressed frontal bone and nasal bridge, hypoplastic middle one-third of face with mandibular prognathism and hyper mobility of both shoulders with associated radiographic features. Odontologist is often the first professional who patient of CCD approaches, since there is a delay in the eruption or absence of permanent teeth. The premature diagnosis allows a scope for proper treatment modalities, offering a better life quality for patient. PMID:25184084

  10. Cleidocranial dysplasia with autosomal dominant inheritance pattern.

    PubMed

    Bhargava, P; Khan, S; Sharma, R; Bhargava, S

    2014-07-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular hypoplasia, retarded cranial ossification, delayed bone and teeth development, supernumerary teeth, stomatognathic, craniofacial and skeletal abnormalities. This paper presents a case of CCD in a female with brachycephalic skull, depressed frontal bone and nasal bridge, hypoplastic middle one-third of face with mandibular prognathism and hyper mobility of both shoulders with associated radiographic features. Odontologist is often the first professional who patient of CCD approaches, since there is a delay in the eruption or absence of permanent teeth. The premature diagnosis allows a scope for proper treatment modalities, offering a better life quality for patient. PMID:25184084

  11. Cleidocranial Dysplasia: A Clinico-radiographic Spectrum with Differential Diagnosis

    PubMed Central

    Patil, Purva Prakash; Barpande, Suresh Ramchandra; Bhavthankar, Jyoti Dilip; Humbe, Jayanti G.

    2015-01-01

    Introduction: Cleidocranial dysplasia (CCD) is characterized by aplasia or hypoplasia of the clavicles, characteristic craniofacial malformations, and the presence of numerous supernumerary and unerupted teeth. It affects bones derived from both intra-membranous and endochondral ossification. Incidence has been reported as 1 in 10,00,000. It is caused by mutation in the gene encoding transcription factor Core Binding Factor Subunit Alpha l (CBFAl) or Runt related transcription factor 2 (RUNX2). Case Report: This presentation discusses the clinical and radiographic features of a familial case of cleidocranial dysplasia occurring in a father and a child. All the clinical and radiographic features, except that of the chest x-ray, were more prominent in the child than the father. This supports the fact that CCD is transmitted by an autosomal-dominant mode of inheritance with high penetrance and variable expressivity. It is sporadic in about 40% of cases. Each child of an individual with CCD has a 50% chance of in heriting the mutation. Conclusion: Diagnosis is mostly made on the basis of clinical and radiographic features. Molecular genetic testing such as sequence analysis or deletion analysis can be used in cleidocranial dysplasia. Some cases are diagnosed through incidental findings by physicians, treating patients for unrelated conditions. Treatment of these patients requires a multidisciplinary approach which includes orthopaedic and dental corrections along with management of any complications of cleidocranial dysplasia. PMID:27299035

  12. Histological examination and clinical evaluation of the jawbone of an adult patient with cleidocranial dysplasia: a case report

    PubMed Central

    Schnutenhaus, Sigmar; Luthardt, Ralph G; Rudolph, Heike; Götz, Werner

    2015-01-01

    Objectives: Cleidocranial dysplasia (CCD) is a rare congenital malformation syndrome, inherited autosomal-dominantly. During a course of treatment including surgical, implantological and restorative procedures, an opportunity arose to histologically examine biopsies of the maxilla and mandible of a CCD patient 47 years of age. Case report: The aim of this case report is to present the results of the histological evaluation of the alveolar bone and the surgical pretreatment for and placement of six implants each in the maxilla and the mandible. The implants were inserted in a minimally invasive procedure using 3D template guidance. Following uneventful healing of the implants, ceramically veneered bridges were cemented on individual titanium abutments. Since the patient had not received orthodontic treatment in childhood-which would have been the treatment modality of choice-this implantological and prosthodontic approach was necessary. Biopsies were taken from the maxilla and the mandible before placing the implants. Histological evaluation showed bone with strong, coarsely interconnecting trabeculae, especially in the maxilla. Both the bone and the gingiva otherwise exhibited a normal structure without pathological features or anomalies. Conclusion: The clinical parameters and histological evaluation of this one clinical case suggest that the concepts familiar from general oral implantology in terms of surgical and prosthetic procedures can be adopted for older patients with CCD. PMID:26339428

  13. Cone-beam computed tomography: An inevitable investigation in cleidocranial dysplasia

    PubMed Central

    Gupta, Nandita S.; Gogri, Ajas A.; Kajale, Manasi M.; Kadam, Sonali G.

    2015-01-01

    Cleidocranial dysplasia is a heritable skeletal dysplasia and one of the most common features of this syndrome is multiple impacted supernumerary teeth. Cone-beam computed tomography, the most recent advancement in maxillofacial imaging, provides the clinician to view the morphology of the skull and the dentition in all three dimensions and help in treatment planning for the patient. PMID:26097368

  14. Cleidocranial Dysplasia Case Report: Remodeling of Teeth as Aesthetic Restorative Treatment

    PubMed Central

    da Cunha, Leonardo Fernandes; Caetano, Isabela Maria; Dalitz, Fernando; Gonzaga, Carla Castiglia; Mondelli, José

    2014-01-01

    Cleidocranial dysplasia (CCD), is an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals. It is generally characterized by orofacial manifestations, including enamel hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth. The successful treatment involving a timing intervention (orthodontic-maxillofacial surgeons-restorative) is already described. However, the restorative treatment might improve the aesthetic final result in dentistry management for patients with cleidocranial dysplasia. Objective. Therefore, this clinical report presents a conservative restorative management (enamel microabrasion, dental bleaching, and direct composite resin) for aesthetic solution for a patient with CCD. Clinical Considerations. The cosmetic remodeling is a conservative, secure, and low cost therapy that can be associated with other procedures such as enamel microabrasion and dental bleaching to achieve optimal outcome. Additionally, the Golden Proportion can be used to guide dental remodeling to improve the harmony of the smile and the facial composition. Conclusions. Thus, dentists must know and be able to treat dental aesthetic problems in cleidocranial dysplasia patients. The intention of this paper is to describe a restorative approach with the cosmetic remodeling teeth (by grinding or addicting material) associated with enamel microabrasion and dental bleaching to reestablish the form, shape, and color of smile for patients with cleidocranial dysplasia. PMID:25045546

  15. An assessment of root cementum in cleidocranial dysplasia.

    PubMed

    Counts, A L; Rohrer, M D; Prasad, H; Bolen, P

    2001-08-01

    The purpose of this prospective study was to determine if there is a difference between the amount of cellular and acellular cementum on the roots of 2 teeth extracted from a subject with cleidocranial dysplasia (CCD) compared to 10 teeth extracted from 10 subjects unaffected by CCD. The cementum of 2 permanent teeth, which had been extracted from the CCD subject, was examined and histomorphometrically analyzed for comparison to the cementum of 10 anterior teeth that had been extracted from individuals who were unaffected by CCD. The percentage of the root covered by cellular or acellular cementum was quantified to determine if patients affected by CCD typically lack cellular cementum. In the roots of the 2 permanent teeth of the subject with CCD, a mean of 18.05 +/- 10.67% was covered by cellular cementum and 76.90 +/- 3.53% was covered by acellular cementum. In the 10 permanent teeth from subjects without CCD, a mean of 19.12 +/- 15.60% of the root was covered by cellular cementum and 80.34 +/- 15.71% was covered by acellular cementum. The findings indicate that there is no statistically significant difference between the amount of either cellular or acellular cementum covering the roots of the study subject with CCD and the roots of the 10 control teeth. The presumption that a lack of cellular cementum causes the increased number of unerupted teeth in patients with CCD is not supported by the findings of this study. PMID:11510638

  16. Prospective signs of cleidocranial dysplasia in Cebpb deficiency

    PubMed Central

    2014-01-01

    Background Although runt-related transcription factor 2 (RUNX2) has been considered a determinant of cleidocranial dysplasia (CCD), some CCD patients were free of RUNX2 mutations. CCAAT/enhancer-binding protein beta (Cebpb) is a key factor of Runx2 expression and our previous study has reported two CCD signs including hyperdontia and elongated coronoid process of the mandible in Cebpb deficient mice. Following that, this work aimed to conduct a case-control study of thoracic, zygomatic and masticatory muscular morphology to propose an association between musculoskeletal phenotypes and deficiency of Cebpb, using a sample of Cebpb-/-, Cebpb+/- and Cebpb+/+ adult mice. Somatic skeletons and skulls of mice were inspected with soft x-rays and micro-computed tomography (μCT), respectively. Zygomatic inclination was assessed using methods of coordinate geometry and trigonometric function on anatomic landmarks identified with μCT. Masseter and temporal muscles were collected and weighed. Expression of Cebpb was examined with a reverse transcriptase polymerase chain reaction (RT-PCR) technique. Results Cebpb-/- mice displayed hypoplastic clavicles, a narrow thoracic cage, and a downward tilted zygomatic arch (p < 0.001). Although Cebpb+/- mice did not show the phenotypes above (p = 0.357), a larger mass percentage of temporal muscles over masseter muscles was seen in Cebpb+/- littermates (p = 0.012). The mRNA expression of Cebpb was detected in the clavicle, the zygoma, the temporal muscle and the masseter muscle, respectively. Conclusions Prospective signs of CCD were identified in mice with Cebpb deficiency. These could provide an additional aetiological factor of CCD. Succeeding investigation into interactions among Cebpb, Runx2 and musculoskeletal development is indicated. PMID:24885110

  17. Multiple, supernumerary retained teeth in the course of cleido-cranial dysplasia. A case report.

    PubMed

    Lewandowski, Bogumił; Martula-Gala, Katarzyna; Brodowski, Robert; Zych, Barbara

    2015-01-01

    Cleido-cranial dysplasia, often referred to as Scheuthauer-Marie-Sainton syndrome, is an autosomal dominant disorder of the musculo-skeletal system. Patients with cleido-cranial dysplasia are characterized by short stature, frequent varus or valgus hip, kyphoscoliosis, underdevelopment of the scapulas and the sternum, incorrect number of ribs. The most characteristic feature is unilateral or bilateral, partial or total underdevelopment of clavicles. Mental development is not affected in this syndrome. Malocclusion, occlusal irregularities, multiple supernumerary teeth, impacted teeth, and persistent milk teeth are found in the stomatognathic system. Teeth often have abnormal anatomy. Gothic palate, cleft hard and soft palate are diagnosed. The aim of this paper is to present a case of a 12-year-old boy diagnosed with irregularities in the masticatory system involving an additional number of retained teeth. The boy was referred by an orthodontist for surgical and orthodontic team therapy. The case presented confirms the observations of other authors that only the multi-specialty collaboration of a pediatrician, a geneticist, an orthopedist, an orthodontist, a maxillofacial surgeon, an implant prosthetic surgeon and a physiotherapist can provide proper diagnosis and treatment. PMID:26982761

  18. Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia

    PubMed Central

    Lee, Ming Ta Michael; Tsai, Anne Chun-Hui; Chou, Ching-Heng; Sun, Feng-Mei; Huang, Li-Chen; Yen, Pauline; Lin, Chyi-Chyang; Liu, Chih-Yang; Wu, Jer-Yuarn; Chen, Yuan-Tsong

    2008-01-01

    Cleidocranial dysplasia (CCD; MIM 119600) is a rare autosomal dominant disorder characterized by facial, dental, and skeletal malformations. To date, rearrangement and mutations involving RUNX2, which encodes a transcription factor required for osteoblast differentiation on 6p21, has been the only known molecular etiology for CCD. However, only 70% patients were found to have point mutations, 13% large/contiguous deletion but the rest of 17% remains unknown. We ascertained a family consisted of eight affected individuals with CCD phenotypes. Direct sequencing analysis revealed no mutations in the RUNX2. Real time quantitative PCR were performed which revealed an exon 2 to exon 6 intragenic deletion in RUNX2. Our patients not only demonstrated a unique gene change as a novel mechanism for CCD, but also highlight the importance of considering “deletion” and “duplication” in suspected familial cases before extensive effort of gene hunting be carried. PMID:18696259

  19. A 13-year-old caucasian boy with cleidocranial dysplasia: a case report

    PubMed Central

    2013-01-01

    Background Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder. The disorder is caused by heterozygosity of mutations in human RUNX2, which is present on the short arm of chromosome 6p21. The incidence of CCD is one per million births. CCD appears spontaneously with no apparent genetic cause in approximately 40% of affected patients, and one in three patients has unaffected parents. The most prevalent features associated with CCD are aplastic or hypoplastic clavicles, supernumerary teeth, failed eruption of permanent teeth, and a hypoplastic maxilla. Case presentation A 13-year-old Caucasian boy presented with a chief complaint of delayed eruption of the permanent anterior teeth. The patient was subsequently diagnosed with CCD based on the clinical examination, panoramic X-ray, anterior-posterior and lateral cephalogram, and chest radiograph findings. The details of this case are herein reported because of the extremely low incidence of this disorder. Conclusions CCD is of clinical importance in dentistry and medicine because it affects the bones and teeth and is characterized by many changes in skeletal patterning and growth. Particularly in dentistry, CCD is of great clinical significance because is associated with delayed ossification of the skull sutures, delayed exfoliation of the primary teeth, lack of permanent teeth eruption, multiple supernumerary teeth, and morphological abnormalities of the maxilla and mandible. Patients with CCD seek treatment mainly for dental problems. Knowledge of the pathogenesis, clinical characteristics, and diagnostic tools of CCD will enable clinicians to render the appropriate treatment to improve function and aesthetics. Early diagnosis of CCD is crucial for timely initiation of an appropriate treatment approach. PMID:23289840

  20. A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.

    PubMed Central

    Feldman, G J; Robin, N H; Brueton, L A; Robertson, E; Thompson, E M; Siegel-Bartelt, J; Gasser, D L; Bailey, L C; Zackai, E H; Muenke, M

    1995-01-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant generalized bone dysplasia characterized by mild-to-moderate short stature, clavicular aplasia or hypoplasia, supernumerary and ectopic teeth, delayed eruption of secondary teeth, a characteristic craniofacial appearance, and a variety of other skeletal anomalies. We have performed linkage studies in five families with CCD, with 24 affected and 20 unaffected individuals, using microsatellite markers spanning two candidate regions on chromosomes 8q and 6. The strongest support for linkage was with chromosome 6p microsatellite marker D6S282 with a two-point lod score of 4.84 (theta = .03). Furthermore, the multipoint lod score was 5.70 in the interval between D6S282 and D6S291. These data show that the gene for autosomal dominant CCD is located within a 19-cM interval on the short arm of chromosome 6, between D6S282 and D6S291. Images Figure 1 PMID:7717404

  1. A review of clinical and radiological features of cleidocranial dysplasia with a report of two cases and a dental treatment protocol

    PubMed Central

    Paul, S. Arun; Simon, S. Sibu; Karthik, A. Kaneesh; Chacko, Rabin K.; Savitha, S.

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare autosomal dominant condition with generalized dysplasia of bone characterized by delayed closure of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal abnormalities. We report two cases presenting with classical features of CCD because of its rarity. PMID:26538892

  2. A rare case of cleidocranial dysplasia presenting with failure to thrive

    PubMed Central

    Mahajan, Parag Suresh; Mahajan, Anuradha Parag; Mahajan, Prashant Suresh

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare (1:1,000,000) congenital condition secondary to spontaneous mutation (40%) or autosomal dominant inheritance (60%) affecting skeletal and dental systems. Hypomineralization of the hypoplastic clavicles and/or cranium is the major feature observed by prenatal ultrasound. Radiologically clavicles are hypoplastic or absent in chest X-ray. Delayed closure of the fontanelle and the skull sutures in pediatric and adolescent population and increased mobility of shoulders in all age groups (exhibited by the ability to bring shoulders close to each other) are prominent clinical diagnostic features of CCD. The diagnosis of CCD is often missed or significantly delayed. The management of CCD involves a multidisciplinary approach and its early diagnosis is essential to select an optimum plan and therapeutic benefit. We present here a case of CCD in a 17-month-old girl referred to us for investigation of below average weight and height gain; we stress on the usefulness of early diagnosis in the management of CCD and discuss current management concepts. PMID:25810671

  3. Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.

    PubMed Central

    Ramesar, R S; Greenberg, J; Martin, R; Goliath, R; Bardien, S; Mundlos, S; Beighton, P

    1996-01-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant disorder, features of which include a patient anterior fontanelle, a bulging calvarium, hypoplasia or aplasia of the clavicles, a wide public symphysis, dental anomalies, vertebral malformation, and short stature. The Cape Town kindred which is under our genetic management was originally described more than four decades ago and now consists of more than 1000 people. Following reports of rearrangements on chromosomes 6 and 8 in people with CCD, we have carried out linkage analyses between highly information microsatellite dinucleotide repeat markers in the rearranged regions and the disorder in a branch of this South African CCD kindred, consisting of 38 subjects, 18 of whom are affected. Maximum lod scores (at theta = 0.00) of 7.14 (for marker D6S459), 4.32 (TCTE), 4.99 (D6S452), 5.97 (D6S269), and 3.95 (D6S465) confirm linkage of the disorder to the short arm of chromosome 6. Our data indicate that the CCD gene is located within a minimal region of approximately 10 cM flanked by the marker D6S451 distally and D6S466 proximally. This information is vital towards isolating and characterising the gene for CCD, and is being used to construct a physical map of 6p21.1-6p21.3. More importantly, mapping of the locus in the South African kindred of mixed ancestry, in which the "founder" of the disorder was of Chinese origin, suggests that a single locus is responsible for classic CCD. Images PMID:8782054

  4. Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.

    PubMed

    Ramesar, R S; Greenberg, J; Martin, R; Goliath, R; Bardien, S; Mundlos, S; Beighton, P

    1996-06-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant disorder, features of which include a patient anterior fontanelle, a bulging calvarium, hypoplasia or aplasia of the clavicles, a wide public symphysis, dental anomalies, vertebral malformation, and short stature. The Cape Town kindred which is under our genetic management was originally described more than four decades ago and now consists of more than 1000 people. Following reports of rearrangements on chromosomes 6 and 8 in people with CCD, we have carried out linkage analyses between highly information microsatellite dinucleotide repeat markers in the rearranged regions and the disorder in a branch of this South African CCD kindred, consisting of 38 subjects, 18 of whom are affected. Maximum lod scores (at theta = 0.00) of 7.14 (for marker D6S459), 4.32 (TCTE), 4.99 (D6S452), 5.97 (D6S269), and 3.95 (D6S465) confirm linkage of the disorder to the short arm of chromosome 6. Our data indicate that the CCD gene is located within a minimal region of approximately 10 cM flanked by the marker D6S451 distally and D6S466 proximally. This information is vital towards isolating and characterising the gene for CCD, and is being used to construct a physical map of 6p21.1-6p21.3. More importantly, mapping of the locus in the South African kindred of mixed ancestry, in which the "founder" of the disorder was of Chinese origin, suggests that a single locus is responsible for classic CCD. PMID:8782054

  5. Generation of cleidocranial dysplasia-specific human induced pluripotent stem cells in completely serum-, feeder-, and integration-free culture.

    PubMed

    Yamasaki, Sachiko; Hamada, Atsuko; Akagi, Eri; Nakatao, Hirotaka; Ohtaka, Manami; Nishimura, Ken; Nakanishi, Mahito; Toratani, Shigeaki; Okamoto, Tetsuji

    2016-02-01

    Human pluripotent stem cells hold great promise for their practical and scientific potentials. To improve understanding of self-renewal and differentiation, we previously reported a defined serum-free medium hESF9 could generate and maintain human induced pluripotent stem cells (iPSCs) in serum- and feeder-free culture conditions using retroviral vectors. To avoid the unpredictable side effects associated with retrovirus integration, we report here the successful generation of hiPSCs from dental pulp cells with a non-integrating replication-defective and persistent Sendai virus (SeVdp) vector expressing four key reprogramming genes. We found that hESF9 medium in combination with fibronectin are effective for generating and maintaining hiPSCs with SeVdp (KOSM). Using this system, pluripotent and self-renewing hiPSCs could be easily and stably generated and propagated. With this system, we successfully generated hiPSCs from cleidocranial dysplasia (CCD) caused by a heterozygous germ-line mutation of runt-related protein2 (RUNX2), which has an important role in the differentiation of osteoblasts and maturation of chondrocytes. This is the first report of the establishment of CCD-specific iPSCs. The cartilage in the teratomas of CCD-iPSCs showed abnormalities. These CCD-iPSCs would be beneficial to clarify the molecular mechanism and for development of medical applications. Moreover, it brings new pathophysiological role of RUNX2 in the differentiation of the human chondrocytes and osteocytes. PMID:26559068

  6. Genetics Home Reference: cleidocranial dysplasia

    MedlinePlus

    ... knees; and an abnormal curvature of the spine ( scoliosis ). Characteristic facial features may include a wide, short ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  7. Hip dysplasia in the skeletally mature patient.

    PubMed

    Goldstein, Rachel Y; Kaye, Ian David; Slover, James; Feldman, David

    2014-01-01

    Abnormal hip development causes one-quarter to one-half of all hip disease. Dysplastic hips typically share characteristic anatomic abnormalities. The dysplastic acetabulum is typically shallow, lateralized, and anteverted with insufficient coverage anteriorly, superiorly, and laterally. The dysplastic proximal femur has a small femoral head with excessive femoral neck anteversion and a short neck with an increased neck shaft angle. These characteristic changes result in intraarticular pathology leading to hip arthritis. A variety of treatment options exist based on the degree of dysplasia and the amount of concomitant hip arthritis. Treatment options include hip arthroscopy, acetabular or femoral osteotomies, hip arthrodesis, and total hip arthroplasty. PMID:25150325

  8. Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient

    PubMed Central

    Gupta, Charu; Verma, Mahesh; Gupta, Rekha; Gill, Shubhra

    2015-01-01

    Reduced number of teeth with underdeveloped alveolar ridges poses a greatest prosthetic challenge in rehabilitation of ectodermal dysplasia patients (ED). Furthermore, surgical risks and financial constraints may preclude the implant supported prosthesis, the most desirable treatment option in an adult ED patient. Long edentulous span does not permit fixed dental prosthesis (FDP) as well. Telescopic denture by incorporating the best of both fixed and removable prosthesis can be a viable treatment alternative for ED patients with compromised dentition and limited finances. A 21-year-old young girl presented with chief complaint of esthetics and mastication due to missing upper and lower teeth. A provisional diagnosis of ED was made based on familial history, physical, and oral examination. This clinical report describes management of an adult ED patient by means of telescopic overdenture prosthesis in mandibular arch and FDP in maxillary arch which restored esthetics, function, and social confidence of the patient in a cost effective manner. PMID:26604583

  9. Conventional Complete Denture in Patients with Ectodermal Dysplasia

    PubMed Central

    Vilanova, Larissa Soares Reis; Sánchez-Ayala, Alfonso; Ribeiro, Giselle Rodrigues; Campos, Camila Heitor; Farias-Neto, Arcelino

    2015-01-01

    Ectodermal dysplasia is described as heritable conditions that involve anomalies of structures derived from the ectoderm, including hypodontia. In the cases of edentulous young patients, who did not finish their craniofacial growth, treatment with conventional complete denture is a suitable alternative. The aim of this study was to report a case of mandibular edentulism treated with conventional complete denture in a thirteen-year-old patient diagnosed with hidrotic ectodermal dysplasia. Typical features, such as frontal bossing, depressed nasal bridge, protuberant lips, scarce hair, and brittle nails, were visualized during the extraoral examination. The intraoral inspection and radiographic analysis revealed oligodontia, dental malformation, and prolonged retention of deciduous teeth at maxilla and total edentulism at mandible. A conventional complete denture was planned and constructed following the same steps of technique as recommended in adults. Although this option is not a definitive treatment, the patient and his parents were satisfied with his improvement in chewing and speech, as well as with the aesthetic benefits. PMID:26425372

  10. [Guidelines for the follow up of patients with bronchopulmonary dysplasia].

    PubMed

    Pérez Tarazona, S; Rueda Esteban, S; Alfonso Diego, J; Barrio Gómez de Agüero, M I; Callejón Callejón, A; Cortell Aznar, I; de la Serna Blázquez, O; Domingo Miró, X; García García, M L; García Hernández, G; Luna Paredes, C; Mesa Medina, O; Moreno Galdó, A; Moreno Requena, L; Pérez Pérez, G; Salcedo Posadas, A; Sánchez Solís de Querol, M; Torrent Vernetta, A; Valdesoiro Navarrete, L; Vilella Sabaté, M

    2016-01-01

    Bronchopulmonary dysplasia (BPD) is the most common complication of preterm birth, and remains a major problem in pediatric pulmonology units. The decision of discharging from the Neonatal Unit should be based on a thorough assessment of the condition of the patient and compliance with certain requirements, including respiratory and nutritional stability, and caregiver education on disease management. For proper control of the disease, a schedule of visits and complementary tests should be established prior to discharge, and guidelines for prevention of exacerbations and appropriate treatment should be applied. In this paper, the Working Group in Perinatal Respiratory Diseases of the Spanish Society of Pediatric Pulmonology proposes a protocol to serve as a reference for the follow up of patients with BPD among different centers and health care settings. Key factors to consider when planning discharge from the Neonatal Unit and during follow up are reviewed. Recommendations on treatment and prevention of complications are then discussed. The final section of this guide aims to provide a specific schedule for follow-up and diagnostic interventions to be performed in patients with BPD. PMID:26089228

  11. [Anesthetic management of a patient with metatropic dysplasia].

    PubMed

    Suzuki, Marie; Niiyama, Yukitoshi; Nawa, Yuko; Yamakage, Michiaki

    2013-02-01

    A 5-year-old girl with metatropic dysplasia was scheduled for an operation of posterior cervical fusion. This disease is a rare skeletal dysplasia characterized by long trunk and short limbs and severe scoliosis. As she had been suspected to have a difficult airway, we attempted fiberoptic intubation with a nasopharyngeal airway to prevent airway obstruction. The nasopharyngeal airway ensured a patent airway sufficient oxygenation, and anesthesia. Thus, it was possible to perform a fiberoptic intubation via the opposite nostril with no adverse event. The combination of a nasopharyngeal airway and fiberoptic guided tracheal intubation is a reliable and safe procedure for small children with metatropic dysplasia and difficult airway. PMID:23479930

  12. Relative risk of dysplasia for patients with intestinal metaplasia in the distal oesophagus and in the gastric cardia

    PubMed Central

    Sharma, P; Weston, A; Morales, T; Topalovski, M; Mayo, M; Sampliner, R

    2000-01-01

    BACKGROUND—Biopsy specimens obtained from the gastro-oesophageal junction can reveal intestinal metaplasia in patients presenting for routine upper endoscopy. The site of biopsy may play a critical role in determining the dysplasia risk of a patient.
AIMS—To evaluate prospectively the dysplasia risk in patients with intestinal metaplasia of the distal oesophagus or within the gastric cardia.
METHODS—Patients with short segment Barrett's oesophagus (SSBO) and cardia intestinal metaplasia (CIM) were followed prospectively.
RESULTS—177 patients with SSBO were identified (mean age 62 years, range 38-82; 91% whites). Twenty prevalence cases of dysplasia in SSBO were detected: 17 low grade dysplasia (LGD), three high grade dysplasia (HGD). Seventy six patients with CIM were identified (mean age 67 years, range 37-81; 81% whites). A single prevalence case of LGD in CIM was detected. During follow up of 78 SSBO and 34 CIM patients, dysplasia developed in nine (seven LGD, two HGD) with SSBO and in one (LGD) with CIM. There were significant differences between the two groups with respect to age, ethnicity, dysplasia prevalence, and incidence. Time to dysplasia progression was significantly longer in CIM compared with SSBO patients. Of the five patients with SSBO and HGD, one developed adenocarcinoma of the oesophagus on follow up. No HGD or cancers have been detected over this time period in CIM patients.
CONCLUSIONS—The dysplasia risk is significantly greater in SSBO than in CIM patients, indicating two potentially different clinical processes. Future studies should separate SSBO from CIM in order to enhance the understanding of the pathophysiology and malignant potential of each entity.


Keywords: high grade dysplasia; low grade dysplasia; metaplasia; Barrett's oesophagus; gastro-oesophageal reflux disease PMID:10601047

  13. Contemporary Concepts in the Young Adult Hip Patient: Periacetabular Osteotomy for Hip Dysplasia.

    PubMed

    Coobs, Benjamin R; Xiong, Ao; Clohisy, John C

    2015-07-01

    The Bernese periacetabular osteotomy, as originally described by Dr. Reinhold Ganz, is an effective treatment for symptomatic acetabular dysplasia in the pre-arthritic young adult hip. This technique has experienced several recent modifications in an attempt to optimize the clinical outcomes of these patients. We will review the clinical presentation of acetabular dysplasia, indications for surgery, contemporary refinements in technique and clinical results following periacetabular osteotomy. In well-selected patients, this reconstructive osteotomy should be considered safe and effective in alleviating pain and improving hip function. PMID:25865812

  14. Effectiveness of Fulkerson Osteotomy with Femoral Nerve Stimulation for Patients with Severe Femoral Trochlear Dysplasia

    PubMed Central

    Crebs, D.T.; Anthony, C.A.; McCunniff, P.T.; Nieto, M.J.; Beckert, M.W.; Albright, J.P.

    2015-01-01

    Background Patients with femoral trochlear dysplasia are at risk for chronic recurrent patellofemoral dislocations, with extreme cases often requiring a surgical procedure. Anteromedialization of the tibial tubercle with intraoperative femoral nerve stimulation and concurrent medial patella-femoral ligament (MPFL) reconstruction is a previously reported method of maximizing patello-femoral congruency. We hypothesize the Fulkerson osteotomy with intraoperative femoral nerve stimulation and concurrent MPFL reconstruction in patients with severe trochlear dysplasia provides equivalent postoperative clinical outcomes to the same procedure in patients with low level trochlear dysplasia. Methods 48 knees underwent Fulkerson osteotomy with intraoperative femoral nerve stimulation and concurrent MPFL reconstruction for recurrent lateral patellar dislocations. MRI, surgeon intraoperative assessment, and X-ray were used to assess degrees of trochlear dysplasia; inter-observer and intra-observer error were measured. The knees positive for severe dysplasia on MRI, intraoperative assessment, and X-ray were considered as a comparison cohort to the rest of the study population. We considered postoperative dislocation events and patellar tracking kinematics as outcome measures. Independent student t tests and Fisher exact tests were used to evaluate differences between groups. Significance was set at P<0.05. Results 11 knees were positive for severe dysplasia (SD) by combined MRI, surgeon intraoperative assessment, and X-ray with the remaining 37 knees categorized as low dysplasia (LD). No patients in either group exhibited apprehension or required re-operation. Mean sulcus angle in the SD group was 175.8 +−2.45 degrees (95% CI 171.0–180.6); the LD group mean sulcus angle was 154.3 +− 0.98 degrees (95% CI 152.4–156.2) (P<.001). Postoperatively there was no significant difference in dislocation events between the SD group (0/11) and the LD group (2/37) (P>0.999). Patellar

  15. [Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery].

    PubMed

    Ahiskalioglu, Elif Oral; Ahiskalioglu, Ali; Firinci, Binali; Dostbil, Aysenur; Aksoy, Mehmet

    2015-01-01

    Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives. PMID:26655713

  16. Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery.

    PubMed

    Ahiskalioglu, Elif Oral; Ahiskalioglu, Ali; Firinci, Binali; Dostbil, Aysenur; Aksoy, Mehmet

    2015-01-01

    Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives. PMID:26614152

  17. [Fibromuscular dysplasia].

    PubMed

    Desbois, A C; Koskas, F; Cacoub, P

    2015-04-01

    Fibromuscular dysplasia is a segmentary, non-atherosclerotic, non-inflammatory vascular disease that may result in stenosis, occlusion, aneurysms or dissection of medium arteries. Renal involvement is the most frequent location, described in 60-100% of patients. Renal stenosis can be asymptomatic or complicated with arterial hypertension or less frequently with renal insufficiency. Carotid and vertebral involvements are less frequent (10-35%). Surgical management of fibromuscular dysplasia is now less common because of the better efficacy of percutaneous transluminal angioplasty. Thus, histologic characteristics are no longer relevant prognostic criteria. Clinical features and outcome vary according to angiographic presentation (focal or multifocal disease), with an increased recovery rate of hypertension with focal lesions. In the presence of renal fibromuscular dysplasia, only symptomatic patients are revascularized (recent or resistant hypertension) or patients with asymmetric renal size or impaired renal function. Transluminal angioplasty is the first-line treatment except for patients with complex lesions or stenosis associated with aneurysm. PMID:25455952

  18. Cartilage Status at Time of Arthroscopy Predicts Failure in Patients With Hip Dysplasia.

    PubMed

    Dwyer, Maureen K; Lee, Jo-Ann; McCarthy, Joseph C

    2015-09-01

    The purpose of our study was to determine whether chondral damage at the time of arthroscopy predicted conversion to THA in patients with dysplasia. We identified 166 patients with dysplasia who underwent hip arthroscopy. Forty-seven went on to receive THA. The articular cartilage of three regions of the acetabulum and femoral head were assessed for signs of chondral damage (absent, mild, or severe]). A stepwise multivariable logistic regression analysis revealed mild damage on the posterior femoral head (P=0.001) and severe damage on the anterior acetabulum (P=0.007) made a significant contribution to the predictor. The presence of mild posterior femoral head chondral changes was indicative of more global cartilage damage in this series of patients. Our findings show that chondral damage on the posterior femoral head and anterior acetabulum is a strong predictor of ultimate conversion to THA in dysplastic patients. PMID:26059500

  19. [Connective tissue dysplasia in patients with celiac desease as a problem of violation of adaptation reserve islands of the body].

    PubMed

    Tkachenko, E; Oreshko, L S; Soloveva, E A; Shabanova, A A; Zhuravleva, M S

    2015-01-01

    Clinically significant dysplasia of connective tissue in patients with celiac disease is often responsible for various visceral disorders. Different disturbances of motor and evacuation functions are often determined in this patients (gastroesophageal reflux, duodenogastral reflux, spastic and hyperkinetic dyskinesia). The clinical course of the celiac disease, associated with connective tissue dysplasia, is characterized by asthenovegetative syndrome, reduced tolerance to physical activity, general weakness, fatigue and emotional instability. These data should be considered in choosing a treatment. PMID:25993866

  20. Diagnosis and Management of Dysplasia in Patients with Ulcerative Colitis and Crohn’s Disease of the Colon

    PubMed Central

    Ullman, Thomas; Odze, Robert; Farraye, Francis A.

    2009-01-01

    To minimize the possibility of developing lethal colorectal cancer (CRC) in ulcerative colitis (UC) and Crohn’s colitis, patients are usually enrolled in a program of dysplasia surveillance. The success of a surveillance program depends on the identification of patients with dysplasia and timely referral for colectomy. While a number of issues might stand in the way of a surveillance system achieving its maximal effect (less than ideal agreement in the interpretation of biopsy specimens, sampling error by endoscopists, delays in referral to surgery, and patient drop-out among others), circumstantial evidence supports the concept that colonoscopic dysplasia surveillance is an effective means of reducing CRC mortality and morbidity while minimizing the application of colectomy for cancer prevention. This review critically appraises key issues in the diagnosis and management of dysplasia in UC and Crohn’s disease as well as adjunct efforts to prevent CRC in inflammatory bowel disease. PMID:18942763

  1. Full mouth rehabilitation of a young patient with partial expressions of ectodermal dysplasia: a clinical report.

    PubMed

    Moshaverinia, Alireza; Torbati, Arman; Kar, Kian; Aalam, Alexandre Amir; Takanashi, Kazunari; Chee, Winston W L

    2014-09-01

    Ectodermal dysplasia (ED) is a hereditary disorder characterized by the abnormal development of specific tissues and structures of ectodermal origin. This clinical report describes the multidisciplinary approach to the diagnosis and treatment of a 24-year-old patient with partial expression of ED. The treatment plan used dental implants to support fixed prostheses and ceramic restorations to establish acceptable esthetics and provide function. PMID:24952881

  2. Application of MSI in MRI-negative focal cortical dysplasia patients with epilepsy

    PubMed Central

    Sun, Jilin; Jia, Xiuchuan; Liu, Xi; Wu, Jie; Li, Sumin

    2015-01-01

    Background: Focal cortical dysplasia (FCD) is the most common cause of intractable epilepsy in children and adolescent. Purpose: To evaluate the application value of magnetic source imaging (MSI) in treatment of magnetic resonance imaging (MRI)-negative FCD patients with epilepsy. Methods: MSI characteristics of 17 cases of MRI-negative focal cortical dysplasia patients with epilepsy were retrospectively analyzed. All patients were treated by surgery. Results: In 17 patients, there were 3 cases of FCD Ia, 7 cases of FCDIb, 3 cases of FCDIIa and 4 cases of FCDIIb. FCD was located at temporal lobe in 8 cases, occipital lobe in 3 cases, frontal lobe in 2 cases and two lobes in 4 cases. In follow-up, 14 patients obtained satisfied curative effect. 1 patient was improved significantly and 2 patients were fine. The concordance between MSI and electrocorticogram in localizing epileptogenic foci was 65%. Conclusion: MSI is a new prospective noninvasive functional neuroimaging technique for identifying and delineating epileptogenic foci in MRI-negative FCD patients. PMID:26770448

  3. Osteogenic sarcoma and soft tissue myxoma in a patient with fibrous dysplasia and hemoglobins JBaltimore and S.

    PubMed

    Witkin, G B; Guilford, W B; Siegal, G P

    1986-03-01

    A 41-year-old man with recognized polyostotic fibrous dysplasia since late childhood developed fibroblastic osteogenic sarcoma in the left tibia. Four months after the initial diagnosis, an intramuscular myxoma was discovered in the left thigh. Twenty years previously he had been found to be heterozygous for hemoglobins JBaltimore and S. Malignant transformation in fibrous dysplasia is unusual and may be associated in some individuals with prior irradiation. Soft tissue myxomas associated with fibrous dysplasia are even rarer. To the best of the authors' knowledge the occurrence of both of these lesions in a patient with fibrous dysplasia has been reported only once before. Patients with both fibrous dysplasia and myxomas may be at greater risk for malignant transformation than are individuals with only one of these lesions. There is no well-recognized association between hemoglobinopathies and either fibrous dysplasia or bone tumors. It is therefore probable that the rare constellation of findings is in this patient a stochastic event. PMID:3456858

  4. Clinical outcomes of implant therapy in ectodermal dysplasia patients: a systematic review.

    PubMed

    Wang, Y; He, J; Decker, A M; Hu, J C; Zou, D

    2016-08-01

    The purpose of this review was to determine the outcome of oral function reconstruction in ectodermal dysplasia (ED) patients who have received dental implant therapy. A search was made of the PubMed and Web of Science databases; key words used were "(ectodermal dysplasia) AND (implant OR implants)", with supplementary retrieval key words "dental implant", "zygomatic implant", "anodontia", and "edentulous". Patient age, use of bone graft, implant site, type of implant, and survival rate of the implants were included in the subsequent data analysis. Forty-five articles published between 1988 and October 2015 were included in this analysis. The cases of a total of 96 patients were retrieved (22 children and 74 adults); these patients received a total of 701 implants. Fourteen implants were removed during a median follow-up time of 24 months. The 24-month implant survival rate was 97.9% in adult subjects and 98.6% in children. Sixty-eight percent of adult patients underwent bone augmentation prior to implant placement. Based on this review, dental implants are commonly used in the oral reconstruction of ED patients. However, long-term data on bone augmentation and implant success are needed, as well as additional clinical evidence on bone resorption, the esthetic outcomes of implant therapy, and physiological considerations in ED patients. PMID:27052318

  5. Role of random biopsies in surveillance of dysplasia in ulcerative colitis patients with high risk of colorectal cancer

    PubMed Central

    Bopanna, Sawan; Roy, Maitreyee; Das, Prasenjit; Dattagupta, S; Sreenivas, V; Mouli, V Pratap; Kedia, Saurabh; Dhingra, Rajan; Pradhan, Rajesh; Kumar, N Suraj; Yadav, Dawesh P; Makharia, Govind

    2016-01-01

    Background/Aims Recent data suggest that the incidence of ulcerative colitis (UC) related colorectal cancer (CRC) in India is similar to that of West. The optimum method for surveillance is still a debate. Surveillance with random biopsies has been the standard of care, but is a tedious process. We therefore undertook this study to assess the yield of random biopsy in dysplasia surveillance. Methods Between March 2014 and July 2015, patients of UC attending the Inflammatory Bowel Disease clinic at the All India Institute of Medical Sciences with high risk factors for CRC like duration of disease >15 years and pancolitis, family history of CRC, primary sclerosing cholangitis underwent surveillance colonoscopy for dysplasia. Four quadrant random biopsies at 10 cm intervals were taken (33 biopsies). Two pathologists examined specimens for dysplasia, and the yield of dysplasia was calculated. Results Twenty-eight patients were included. Twenty-six of these had pancolitis with a duration of disease greater than 15 years, and two patients had associated primary sclerosing cholangis. No patient had a family history of CRC. The mean age at onset of disease was 28.89±8.73 years and the duration of disease was 19.00±8.78 years. Eighteen patients (64.28%) were males. A total of 924 biopsies were taken. None of the biopsies revealed any evidence of dysplasia, and 7/924 (0.7%) were indefinite for dysplasia. Conclusions Random biopsy for surveillance in longstanding extensive colitis has a low yield for dysplasia and does not suffice for screening. Newer techniques such as chromoendoscopy-guided biopsies need greater adoption. PMID:27433149

  6. Relationship between angiogenic squamous dysplasia and bronchogenic carcinoma in patients undergoing white light bronchoscopy

    PubMed Central

    Karimi, Shirin; Mohammadi, Forouzan; Khodadad, Kian; Sadr, Makan; Seyfollahi, Leila; Masjedi, Mohammad Reza

    2012-01-01

    OBJECTIVE: To better understand the characteristic morphology of angiogenic squamous dysplasia (ASD) and its association with different types of common bronchogenic carcinomas using routine white light bronchoscopy. METHODS: Using a case-control design, 186 formalin-fixed paraffin-embedded blocks of bronchial tissue (136 cases, 50 controls) obtained from patients who underwent routine nonfluorescence bronchoscopy between 2004 and 2005 were studied. RESULTS: ASD occurred at a higher frequency in patients with neoplastic lesions compared with those without neoplastic lesions (28 of 136 versus one of 50). ASD was also more prevalent in patients with squamous cell carcinoma compared with other neoplasms. Seventy six per cent of the ASD patients (22 of 29) smoked cigarettes. The morphology of ASD on hematoxylin and eosin- and CD31-stained sections was characterized by prominent microvasculature and capillary projections closely juxtaposed to variable degrees of dysplasia in all of the bronchogenic carcinoma specimens, and to metaplasia in one case in the control group. CONCLUSION: ASD is a unique morphological entity that should be considered by pathologists even on bronchoscopic biopsies from patients who undergo white light bronchoscopy. The presence of ASD may represent a risk biomarker of bronchogenic carcinoma in screening programs and in chemoprevention of lung cancer. PMID:22679613

  7. Upper tract juvenile polyps in juvenile polyposis patients: dysplasia and malignancy are associated with foveolar, intestinal, and pyloric differentiation.

    PubMed

    Ma, Changqing; Giardiello, Francis M; Montgomery, Elizabeth A

    2014-12-01

    Patients with juvenile polyposis syndrome (JPS), a hereditary autosomal dominant hamartomatous polyposis syndrome, are at increased risk for colorectal adenocarcinoma. The upper gastrointestinal tract is less often involved by JPS than the colorectum, and, consequently, upper tract juvenile polyps (JPs) are not well studied. We reviewed upper endoscopies and corresponding biopsies in JPS patients documented in our Polyposis Registry. A total of 199 upper gastrointestinal biopsies from 69 endoscopies were available in 22 of 41 (54%) JPS patients. Thirteen of the 22 patients (59%) had ≥1 gastric JP; 5 also had 6 small bowel JPs. Gastric JP was identified as early as age 7 in a patient with an SMAD4 gene mutation. Two patients (9%) had high-grade dysplasia in gastric JP. Invasive adenocarcinoma was diagnosed in the gastrectomy specimen of 1 patient. Five patients had a huge gastric polyp burden; 3 underwent total gastrectomy. Three patients died of complications associated with extensive upper JP. Histologically, 8 of the 56 (14%) gastric JPs identified had dysplasia. All of the 8 polyps demonstrated intestinalized and pyloric gland differentiation intermixed with foveolar epithelium. Dysplasia was seen arising in all 3 types of epithelium. The flat gastric mucosa in 11 patients was unremarkable without inflammation or intestinal metaplasia. The 6 small bowel JPs had no dysplasia. Our findings suggest that JPS patients are at increased risk for gastric adenocarcinoma. Detection of malignancy in syndromic gastric JP indicates that the current screening procedures are insufficient in removal of precursor lesions to prevent progression to carcinoma. PMID:25390638

  8. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

    PubMed

    Barat-Houari, Mouna; Dumont, Bruno; Fabre, Aurélie; Them, Frédéric Tm; Alembik, Yves; Alessandri, Jean-Luc; Amiel, Jeanne; Audebert, Séverine; Baumann-Morel, Clarisse; Blanchet, Patricia; Bieth, Eric; Brechard, Marie; Busa, Tiffany; Calvas, Patrick; Capri, Yline; Cartault, François; Chassaing, Nicolas; Ciorca, Vidrica; Coubes, Christine; David, Albert; Delezoide, Anne-Lise; Dupin-Deguine, Delphine; El Chehadeh, Salima; Faivre, Laurence; Giuliano, Fabienne; Goldenberg, Alice; Isidor, Bertrand; Jacquemont, Marie-Line; Julia, Sophie; Kaplan, Josseline; Lacombe, Didier; Lebrun, Marine; Marlin, Sandrine; Martin-Coignard, Dominique; Martinovic, Jelena; Masurel, Alice; Melki, Judith; Mozelle-Nivoix, Monique; Nguyen, Karine; Odent, Sylvie; Philip, Nicole; Pinson, Lucile; Plessis, Ghislaine; Quélin, Chloé; Shaeffer, Elise; Sigaudy, Sabine; Thauvin, Christel; Till, Marianne; Touraine, Renaud; Vigneron, Jacqueline; Baujat, Geneviève; Cormier-Daire, Valérie; Le Merrer, Martine; Geneviève, David; Touitou, Isabelle

    2016-07-01

    Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest dysplasia cases, and 34 other dysplasia cases) before molecular diagnosis by Sanger sequencing. We identified 66 different variants among the 71 positive patients. Among those patients, 18 belonged to multiplex families and 53 were sporadic. Most variants (38/44, 86%) were located in the triple helical domain of the collagen chain and glycine substitutions were mainly observed in severe phenotypes, whereas arginine to cysteine changes were more often encountered in moderate phenotypes. This series of skeletal dysplasia is one of the largest reported so far, adding 44 novel variants (15%) to published data. We have confirmed that about half of our Stickler patients (46%) carried a COL2A1 variant, and that the molecular spectrum was different across the phenotypes. To further address the question of genotype-phenotype correlation, we plan to screen our patients for other candidate genes using a targeted next-generation sequencing approach. PMID:26626311

  9. BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency.

    PubMed

    Darbinyan, Armine; Major, Eugene O; Morgello, Susan; Holland, Steven; Ryschkewitsch, Caroline; Monaco, Maria Chiara; Naidich, Thomas P; Bederson, Joshua; Malaczynska, Joanna; Ye, Fei; Gordon, Ronald; Cunningham-Rundles, Charlotte; Fowkes, Mary; Tsankova, Nadejda M

    2016-01-01

    Human BK polyomavirus (BKV) is reactivated under conditions of immunosuppression leading most commonly to nephropathy or cystitis; its tropism for the brain is rare and poorly understood. We present a unique case of BKV-associated encephalopathy in a man with hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID) due to IKK-gamma (NEMO) mutation, who developed progressive neurological symptoms. Brain biopsy demonstrated polyomavirus infection of gray and white matter, with predominant involvement of cortex and distinct neuronal tropism, in addition to limited demyelination and oligodendroglial inclusions. Immunohistochemistry demonstrated polyoma T-antigen in neurons and glia, but expression of VP1 capsid protein only in glia. PCR analysis on both brain biopsy tissue and cerebrospinal fluid detected high levels of BKV DNA. Sequencing studies further identified novel BKV variant and disclosed unique rearrangements in the noncoding control region of the viral DNA (BKVN NCCR). Neuropathological analysis also demonstrated an unusual form of obliterative fibrosing vasculopathy in the subcortical white matter with abnormal lysosomal accumulations, possibly related to the patient's underlying ectodermal dysplasia. Our report provides the first neuropathological description of HED-ID due to NEMO mutation, and expands the diversity of neurological presentations of BKV infection in brain, underscoring the importance of its consideration in immunodeficient patients with unexplained encephalopathy. We also document novel BKVN NCCR rearrangements that may be associated with the unique neuronal tropism in this patient. PMID:27411570

  10. Are cam and pincer deformities as common as dysplasia in Japanese patients with hip pain?

    PubMed

    Mori, R; Yasunaga, Y; Yamasaki, T; Nakashiro, J; Fujii, J; Terayama, H; Ohshima, S; Ochi, M

    2014-02-01

    In Japan, osteoarthritis (OA) of the hip secondary to acetabular dysplasia is very common, and there are few data concerning the pathogeneses and incidence of femoroacetabular impingement (FAI). We have attempted to clarify the radiological prevalence of painful FAI in a cohort of Japanese patients and to investigate the radiological findings. We identified 176 symptomatic patients (202 hips) with Tönnis grade 0 or 1 osteoarthritis, whom we prospectively studied between August 2011 and July 2012. There were 61 men (65 hips) and 115 women (137 hips) with a mean age of 51.8 years (11 to 83). Radiological analyses included the α-angle, centre-edge angle, cross-over sign, pistol grip deformity and femoral head neck ratio. Of the 202 hips, 79 (39.1%) had acetabular dysplasia, while 80 hips (39.6%) had no known aetiology. We found evidence of FAI in 60 hips (29.7%). Radiological FAI findings associated with cam deformity were the most common. There was a significant relationship between the pistol grip deformity and both the α-angle (p < 0.001) and femoral head-neck ratio (p = 0.024). Radiological evidence of symptomatic FAI was not uncommon in these Japanese patients. PMID:24493180

  11. Esophagectomy for failed endoscopic therapy in patients with high-grade dysplasia or intramucosal carcinoma.

    PubMed

    Hunt, B M; Louie, B E; Dunst, C M; Lipham, J C; Farivar, A S; Sharata, A; Aye, R W

    2014-01-01

    Endoscopic therapy (ablation +/- endoscopic resection) for high-grade dysplasia and/or intramucosal carcinoma (IMC) of the esophagus has demonstrated promising results. However, there is a concern that a curable, local disease may progress to systemic disease with repeated endotherapy. We performed a retrospective review of patients who underwent esophagectomy after endotherapy at three tertiary care esophageal centers from 2006 to 2012. Our objective was to document the clinical and pathologic outcomes of patients who undergo esophagectomy after failed endotherapy. Fifteen patients underwent esophagectomy after a mean of 13 months and 4.1 sessions of endotherapy for progression of disease (53%), failure to clear disease (33%), or recurrence (13%). Initially, all had Barrett's, 73% had ≥3-cm segments, 93% had a nodule or ulcer, and 91% had multifocal disease upon presentation. High-grade dysplasia was present at index endoscopy in 80% and IMC in 33%, and some patients had both. Final pathology at esophagectomy was T0 (13%), T1a (60%), T1b (20%), and T2 (7%). Positive lymph nodes were found in 20%: one patient was T2N1 and two were T1bN1. Patients with T1b, T2, or N1 disease had more IMC on index endoscopy (75% vs. 18%) and more endotherapy sessions (median 6.5 vs. 3). There have been no recurrences a mean of 20 months after esophagectomy. Clinical outcomes were comparable to other series, but submucosal invasion (27%) and node-positive disease (20%) were encountered in some patients who initially presented with a locally curable disease and eventually required esophagectomy after failed endotherapy. An initial pathology of IMC or failure to clear disease after three treatments should raise concern for loco-regional progression and prompt earlier consideration of esophagectomy. PMID:23795720

  12. Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.

    PubMed

    Jakubiczka, S; Schröder, C; Ullmann, R; Volleth, M; Ledig, S; Gilberg, E; Kroisel, P; Wieacker, Peter

    2010-01-01

    Campomelic dysplasia (MIM 114290) is a severe malformation syndrome frequently accompanied by male-to-female sex reversal. Causative are mutations within the SOX9 gene on 17q24.3 as well as chromosomal aberrations (translocations, inversions or deletions) in the vicinity of SOX9. Here, we report on a patient with muscular hypotonia, craniofacial dysmorphism, cleft palate, brachydactyly, malformations of thoracic spine, and gonadal dysgenesis with female external genitalia and müllerian duct derivatives in the presence of a male karyotype. X-ray examination and clinical examinations revealed no signs of campomelia. The combination of molecular cytogenetic analysis and array CGH revealed an unbalanced translocation between one chromosome 7 and one chromosome 17 [46,XY,t(7;17)(q33;q24).ish t(7;17)(wcp7+,wcp17+;wcp7+wcp17+)] with a deletion of approximately 4.2 Mb located about 0.5 Mb upstream of SOX9. STS analysis confirmed the deletion of chromosome 17, which has occurred de novo on the paternal chromosome. The proximal breakpoint on chromosome 17 is localized outside the known breakpoint cluster regions. The deletion on chromosome 17q24 removes several genes. Among these genes PRKAR1A is deleted. Inactivating mutations of PRKAR1A cause Carney complex. To our knowledge, this is the first report of a patient with acampomelic campomelic dysplasia, carrying both a deletion and a translocation. PMID:20453475

  13. Novel diagnostic and therapeutic techniques for surveillance of dysplasia in patients with inflammatory bowel disease

    PubMed Central

    Iacucci, M; Uraoka, T; Gasia, M Fort; Yahagi, N

    2014-01-01

    The risk for developing dysplasia and colorectal cancer in patients with longstanding inflammatory bowel disease (IBD) involving the colon is well documented. Random biopsies during white-light, standard-definition colonoscopy (33 to 50 biopsies) with or without dye spraying chromoendoscopy has been the recommended strategy in North America to detect dysplastic lesions in IBD. However, there are several limitations to this approach including poor physician adherence, poor sensitivity, increased procedure time and considerable cost. The new generation of high-definition endoscopes with electronic filter technology provide an opportunity to visualize colonic mucosal and vascular patterns in minute detail, and to identify subtle flat, multifocal, polypoid and pseudopolypoid neoplastic and non-neoplastic lesions. The application of these new technologies in IBD is slowly being adopted in clinical practice. In addition, the advent of confocal laser endomicroscopy provides an opportunity to explore real-time histology, thus redefining the understanding and characterization of the lesions in IBD. There is emerging evidence that serrated adenomas are also associated with longstanding IBD colitis and may be recognized as another important contributing factor to colorectal cancer development. The circumscribed neoplastic lesions can be treated using endoscopic therapeutic management such as mucosal resection or, especially, endoscopic submucosal dissection. This may replace panproctocolectomy in selected patients. The authors review the potential of these techniques to transform endoscopic diagnosis and therapeutic management of dysplasia in IBD. PMID:25157526

  14. Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia.

    PubMed

    Delfino, Luciana Nogueira; Fariello, Giuseppe; Quattrocchi, Carlo Cosimo; Aiello, Costanza; Menchini, Laura; Devito, Rita; Zama, Mario; Claps, Dianella; Vigevano, Federico; Longo, Daniela

    2011-07-01

    Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by involvement of tissues of ectodermal and mesodermal origin such as skin, eye, adipose tissue, and brain. Since 1970, when Haberland and Perou had described the first patient, 54 cases of ECCL have been reported in literature. We report on three new boys with ECCL. In addition to their typical dermal, ocular and central nervous system anomalies, one of them had a spheno-ethmoidal osseous lesion. Histopathological evaluation confirmed the benign nature of the lesion and was consistent with fibrous dysplasia. The aim of our study is to review clinical records and brain imaging studies of these three new patients with ECCL and compare these findings with those reported in literature to better define the phenotypic spectrum and radiological findings in ECCL. PMID:21626669

  15. Burn, freeze, or photo-ablate?: comparative symptom profile in Barrett's dysplasia patients undergoing endoscopic ablation

    NASA Astrophysics Data System (ADS)

    Gill, Kanwar Rupinder S.; Gross, Seth A.; Greenwald, Bruce D.; Hemminger, Lois L.; Wolfsen, Herbert C.

    2009-06-01

    Background: There are few data available comparing endoscopic ablation methods for Barrett's esophagus with high-grade dysplasia (BE-HGD). Objective: To determine differences in symptoms and complications associated with endoscopic ablation. Design: Prospective observational study. Setting: Two tertiary care centers in USA. Patients: Consecutive patients with BE-HGD Interventions: In this pilot study, symptoms profile data were collected for BE-HGD patients among 3 endoscopic ablation methods: porfimer sodium photodynamic therapy, radiofrequency ablation and low-pressure liquid nitrogen spray cryotherapy. Main Outcome Measurements: Symptom profiles and complications from the procedures were assessed 1-8 weeks after treatment. Results: Ten BE-HGD patients were treated with each ablation modality (30 patients total; 25 men, median age: 69 years (range 53-81). All procedures were performed in the clinic setting and none required subsequent hospitalization. The most common symptoms among all therapies were chest pain, dysphagia and odynophagia. More patients (n=8) in the porfimer sodium photodynamic therapy group reported weight loss compared to radio-frequency ablactation (n=2) and cryotherapy (n=0). Four patients in the porfimer sodium photodynamic therapy group developed phototoxicity requiring medical treatment. Strictures, each requiring a single dilation, were found in radiofrequency ablactation (n=1) and porfimer sodium photodynamic therapy (n=2) patients. Limitations: Small sample size, non-randomized study. Conclusions: These three endoscopic therapies are associated with different types and severity of post-ablation symptoms and complications.

  16. [Compression of a nasotracheal tube in the nasal cavity of a patient with craniofacial fibrous dysplasia].

    PubMed

    Takasugi, Yoshihiro; Iwamoto, Tatsushige; Uehara, Keiji; Shiba, Mayuka; Koga, Yoshihisa

    2008-06-01

    A 42-year-old woman with craniofacial fibrous dysplasia underwent osteoplasty of maxillary and mandibular bone. Preoperative CT images showed osteosclerosis and ground glass appearance of the right side of the skull including the orbit, temporal bone, paranasal sinus, and maxillary and mandibular bones, as well as hypertrophy of the nasal septum. Inhalation anesthesia was induced and 8.0-mmID polyvinyl chloride endotracheal tube was inserted via the left nostril with slight resistance. At emergence, a 10-Fr suction catheter could not be passed throgh the tube but an 8-Fr nasogastric tube could be passed. A part of the tube positioned in the nasal cavity was apparently compressed. Preoperative examination of the nasal cavity and nasal septum using CT or MRI may be desirable for nasotracheal intubation in the patients with craniofacial tumor, and the application of a spiral reinforced endotracheal tube may contribute to prevent such cases of airway obstruction in the nasal cavity. PMID:18546906

  17. Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

    PubMed Central

    Lukacs, Viktor; Mathur, Jayanti; Mao, Rong; Bayrak-Toydemir, Pinar; Procter, Melinda; Cahalan, Stuart M.; Kim, Helen J.; Bandell, Michael; Longo, Nicola; Day, Ronald W.; Stevenson, David A.; Patapoutian, Ardem; Krock, Bryan L.

    2015-01-01

    Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of PIEZO1 loss of function in humans has not previously been documented. Here we discover a novel role of this channel in the lymphatic system. Through whole-exome sequencing, we identify biallelic mutations in PIEZO1 (a splicing variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings affected with persistent lymphoedema caused by congenital lymphatic dysplasia. Analysis of patients' erythrocytes as well as studies in a heterologous system reveal greatly attenuated PIEZO1 function in affected alleles. Our results delineate a novel clinical category of PIEZO1-associated hereditary lymphoedema. PMID:26387913

  18. Cervical dysplasia

    MedlinePlus

    ... cervical dysplasia is caused by the human papillomavirus (HPV). HPV is a common virus that is spread through sexual contact. There are many types of HPV. Some types lead to cervical dysplasia or cancer. ...

  19. Kidney Dysplasia

    MedlinePlus

    ... following early in life: blood-filtering treatments called dialysis a kidney transplant Children with dysplasia in only ... mild dysplasia of both kidneys may not need dialysis or a kidney transplant for several years. Kidney ...

  20. [Nonarthroplasty methods for developmental dysplasia of the hip with complete dislocation at the age of 8-25 patients].

    PubMed

    Zang, Jiancheng; Zhang, Hong

    2015-06-01

    It is a tough challenge treatment of complete dislocation from developmental dysplasia of the hip at the age of 8-25 patients. Although the procedure of total hip arthroplasty (THA) can improve joint function significantly, the failure rate still remains high. Hip arthrodesis remains a sensible and safe option. A stable and painless hip joint can be obtained without multiple operations. Ganz et al.had described a modified Colonna capsular arthroplasty and surgical hip dislocation with well joint functions, radiographic findings and the less complications of the femoral head osteonecrosis. There is a obvious advantage in postponing THA, and subsequent THA could be technically easier and safer in a dislocated hip. The procedure of pelvic support osteotomy, which is proposed by Ilizarov, combined two steps of femur osteotomy and femur lengthening, provides an effective treatment option for adolescent hip dysplasia or dislocation. By this procedure, the hip could be reserved, the limb length recovered and the gait improved significantly. Resection arthroplasty is a reliable method, by which 90% dysplasia patients received a painless joint and good functional outcomes. In view of certain drawbacks, it is used only as a salvage operation currently. This article reviews some alternative nonarthroplasty methods for developmental dysplasia of the hip with complete dislocation. Good clinical results can be obtained through strict indications and nice surgical skills. PMID:26359064

  1. Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.

    PubMed

    Moosa, Shahida; Obregon, Maria Gabriela; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Fano, Virginia; Wollnik, Bernd

    2016-05-01

    Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive ciliary chondrodysplasia characterized by a recognizable craniofacial gestalt, skeletal abnormalities, and ectodermal features. To date, four genes have been shown to underlie the syndrome, namely, IFT122 (WDR10), WDR35 (IFT121), IFT43 (C14orf179), and WDR19 (IFT144). Clinical characterization of a larger cohort of patients with CED has been undertaken previously. Nevertheless, there are too few molecularly confirmed patients reported in the literature to determine precise genotype-phenotype correlations. To date, biallelic IFT122 mutations have been described in only five families. We therefore studied three unrelated Argentinian patients with typical features of CED using a 4813 next-generation sequencing (NGS) gene panel, which we call the "Mendeliome." The three patients had different, novel, compound heterozygous mutations in IFT122. Consequently, we compared these three patients to those previously described with IFT122 mutations. Thus, our report serves to add 6 novel mutations to the IFT122 mutation spectrum and to contribute to the IFT122-related clinical characterization. © 2016 Wiley Periodicals, Inc. PMID:26792575

  2. CT and MR Imaging in a Large Series of Patients with Craniofacial Fibrous Dysplasia

    PubMed Central

    Atalar, Mehmet Haydar; Salk, Ismail; Savas, Recep; Uysal, Ismail Onder; Egilmez, Hulusi

    2015-01-01

    Summary Background In this retrospective review of patients with craniofacial fibrous dysplasia (FD), the clinical and radiological findings of CT and MR scan were analyzed. Material/Methods The study material included 32 patients, at 9 to 68 years of age that were directed for differential diagnostics of several disorders in the head. We recorded CT and MRI data related to the lesion number, location, sidedness, appearance, and sex of the cases with craniofacial FD. Results Of 32 patients involved in this study, 17 had monostotic and 15 had polyostotic involvement pattern. Bones most commonly involved by monostotic involvement in females were, in descending order, mandibular, maxillary, and sphenoid bones, while the sphenoid bone was involved the most in males. Leontiasis ossea was observed in 2 patients. Sclerotic and mixed lesion types were more common in both females and males. In T1- and T2-weighted MRI sequences, hypointensity was more common compared to hyperintensity or heterogeneous intensity. The type of enhancement of lesions was found similar after contrast medium administration. Conclusions In the presence of craniofacial FD during CT or MRI imaging of the head, a detailed description of FD lesions may provide an important clinical benefit by increasing radiological experience during the diagnostics of this rare disorder. PMID:26000068

  3. Expression of TRPC6 and BDNF in Cortical Lesions From Patients With Focal Cortical Dysplasia

    PubMed Central

    Zheng, Da-Hai; Guo, Wei; Sun, Fei-Ji; Xu, Guang-Zhen; Zang, Zhen-Le; Shu, Hai-Feng

    2016-01-01

    Focal cortical dysplasia (FCD) likely results from abnormal migration of neural progenitor cells originating from the subventricular zone. To elucidate the roles in molecules that are involved in neural migration pathway abnormalities in FCDs, we investigated the expression patterns of transient receptor potential canonical channel 6 (TRPC6) and brain-derived neurotrophic factor (BDNF) in cortical lesions from FCD patients and in samples of normal control cortex. TRPC6 and BDNF mRNA and protein levels were increased in FCD lesions. By immunohistochemistry, they were strongly expressed in microcolumns, heterotopic neurons, dysmorphic neurons, and balloon cells (BCs). Colocalization assays revealed that most of the misshapen TRPC6-positive or heterotopic cells had a neuronal lineage with the exception of TRPC6-positive FCDiib patient BCs, which had both neuronal and glial features. Most TRPC6-positive cells were glutamatergic neurons. There was also greater expression of calmodulin-dependent kinase IV (CaMKIV), the downstream factor of TRPC6, in FCD lesions, suggesting that TRPC6 expression promoted dendritic growth and the development of dendritic spines and excitatory synapses via the CaMKIV-CREB pathway in FCD. Thus, overexpression of BDNF and TRPC6 and activation of the TRPC6 signal transduction pathway in cortical lesions of FCD patients may contribute to FC pathogenesis and epileptogenesis. PMID:27288906

  4. Shielding during x-ray examination of pediatric female patients with developmental dysplasia of the hip.

    PubMed

    Tsai, Yi-Shan; Liu, Yi-Sheng; Chuang, Ming-Tsung; Wang, Chien-Kuo; Lai, Cheng-Shih; Tsai, Hong-Ming; Lin, Chii-Jeng; Lu, Chia-Hsing

    2014-12-01

    Patients with developmental dysplasia of the hip (DDH) generally undergo multiple x-ray examinations of both hip joints. During these examinations, the gonads are completely exposed to radiation, unless shielded. Although many types and sizes of gonad shields exist, they often do not provide adequate protection because of size and placement issues; additionally, these shields are frequently omitted for female patients. Our aim was to assess gonad protection during x-ray examination that is provided by gonad shields designed for individual female patients with DDH.We retrospectively retrieved data from the Picture Archiving and Communication System database; pelvic plain x-ray films from 766 females, 18 years old or younger, were included in our analysis. Based on x-ray measurements of the anterior superior iliac spine, we developed a system of gonad shield design that depended on the distance between anterior superior iliac spine markers. We custom-made shields and then examined shielding rates and shielding accuracy before and after these new shields became available. Standard (general-purpose) shields were used before our custom design project was implemented. The shielding rate and shielding accuracy were, respectively, 14.5% and 8.4% before the project was implemented and 72.7% and 32.2% after it was implemented. A shield that is more anatomically correct and available in several different sizes may increase the likelihood of gonad protection during pelvic x-ray examinations. PMID:25325378

  5. Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.

    PubMed

    Connor, Cody J; Shchelochkov, Oleg A; Ciliberto, Heather

    2015-10-01

    Terminal osseous dysplasia with pigmentary defects (TODPD) is a rare, X-linked syndrome classically characterized by distal limb anomalies, pigmented skin defects of the face, and recurrent digital fibromas. X-inactivation plays a major role in determining the range of phenotypic expression. Thus, patients can demonstrate a wide spectrum of disease severity, making accurate diagnosis more challenging. Recent studies have identified a FLNA c.5217G>A mutation as the cause of TODPD, allowing for diagnostic genetic testing. We present a case of molecularly confirmed TODPD in a girl with the 47,XXX chromosomal complement and deformities of the hands and feet, craniofacial abnormalities, and discolored, linear facial lesions. Skin biopsy of the patient's facial lesion revealed absent papillary dermal elastic fibers, consistent with anetoderma, which contrasts with the dermal hypoplasia described in the only other such facial biopsy reported in the literature. The finding of absent elastic fibers in the skin lesions suggests that mutated filamin A, in part, exerts its effects through dysregulated elastin biology, which may explain the nature of many connective tissue pleotropic effects in FLNA-related disorders. PMID:26059211

  6. A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?

    PubMed

    Tan, Tiong Yang; Whitelaw, Charlotte; Savarirayan, Ravi

    2007-10-01

    We report a 15-year-old girl with features of the MURCS (Mullerian abnormalities, renal agenesis/ectopy and cervicothoracic somite dysplasia) association and birth defects not typically associated with MURCS. In addition to seizures and intellectual disability, she has cortical brain heterotopia, bilateral subclinical cataracts, submucous cleft palate and patent ductus arteriosus. We propose that this patient represents a more severe form of MURCS, or 'MURCS-plus', which may represent a defect of or insult to mesodermal morphogenesis. PMID:17786121

  7. A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.

    PubMed

    Barraza-García, Jimena; Rivera-Pedroza, Carlos I; Belinchón, Alberta; Fernández-Camblor, Carlota; Valenciano-Fuente, Blanca; Lapunzina, Pablo; Heath, Karen E

    2016-08-01

    Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disease characterized by skeletal dysplasia, focal segmental glomerulosclerosis, renal failure and immunodeficiency. In this work, we report the molecular studies undertaken in a severely affected SIOD patient that died at six years old due to nephropathy. The patient was screened for mutations using a targeted skeletal dysplasias panel. A homozygous novel missense mutation was identified, c.1615C > G (p.[Leu539Val]) that was predicted as mildly pathogenic by in silico pathogenicity prediction tools. However, splicing prediction software suggested that this variant may create a new splicing donor site in exon 9, which was subsequently confirmed using a minigene assay in HEK293 cells. Thus, the splicing alteration, c.1615C > G; r.1615c > g, 1615_1644del; (p.[Leu539_Ile548del]), results in the loss of 10 amino acids of the HARP-ATPase catalytic domain and the RPA-binding domain. Several studies have demonstrated a weak genotype-phenotype correlation among such patients. Thus, the molecular characterization has helped us to understand why a predicted weakly pathogenic missense mutation results in severe SIOD and should be considered in similar scenarios. PMID:27282802

  8. Cervical Dysplasia

    PubMed Central

    Carmichael, John A.

    1983-01-01

    Invasive squamous carcinoma of the cervix is preceded by a series of premalignant changes described as mild, moderate, or severe dysplasia, and carcinoma in situ. These premalignant states are identified by cervical cytology, diagnosed by colposcopy and if effectively treated, can prevent invasive squamous carcinoma of the cervix. Because of the apparent biological variation of the premalignant states, even the most aggressive cervical screening program cannot be expected to eliminate all invasive squamous cancer of the cervix. Optimal results of a cervical screening program will be achieved when all women under 35 years of age and sexually active have an annual cytological smear; the cytology is screened by a laboratory with high quality control; the patient's positive cytology is accurately assessed by an experienced colposcopist, and the premalignant lesion is effectively treated. PMID:21283455

  9. Computer-Assisted Rotational Acetabular Osteotomy for Patients with Acetabular Dysplasia

    PubMed Central

    Kobayashi, Naomi; Ike, Hiroyuki; Kubota, So; Saito, Tomoyuki

    2016-01-01

    Rotational acetabular osteotomy (RAO) is a well-established surgical procedure for patients with acetabular dysplasia, and excellent long-term results have been reported. However, RAO is technically demanding and precise execution of this procedure requires experience with this surgery. The usefulness of computer navigation in RAO includes its ability to perform three-dimensional (3D) preoperative planning, enable safe osteotomy even with a poor visual field, reduce exposure to radiation from intraoperative fluoroscopy, and display the tip position of the chisel in real time, which is educationally useful as it allows staff other than the operator to follow the progress of the surgery. In our results comparing 23 hips that underwent RAO with navigation and 23 hips operated on without navigation, no significant difference in radiological assessment was observed. However, no perioperative complications were observed in the navigation group whereas one case of transient femoral nerve palsy was observed in non-navigation group. A more accurate and safer RAO can be performed using 3D preoperative planning and intraoperative assistance with a computed tomography-based navigation system. PMID:26929806

  10. A patient with focal fibrocartilaginous dysplasia in the distal femur and review of the literature.

    PubMed

    Ando, Akira; Hatori, Masahito; Hosaka, Masami; Hagiwara, Yoshihiro; Kita, Atsushi; Ochiai, Tatsuhiro; Itoi, Eiji

    2008-08-01

    Focal fibrocartilaginous dysplasia (FFCD) is a rare and benign bone lesion that induces bowing deformity of the long bones in young children. Excessive production of fibrocartilage by abnormal differentiation in the metaphysis or by trauma during delivery or after birth is thought to cause growth disturbance. Radiologically, the lesion is characterized by a lucent defect with marginal sclerosis in the medial metaphysis of the long bone. However, there have been few reports about the initial radiological changes of FFCD before bowing started. We report a patient with FFCD in the left distal femur in whom the radiological changes were serially observed during the course of the disorder. A 2-week-old boy first visited our hospital because of left thigh pain. Plain radiographs did not show any abnormal findings at that time. At 10 weeks, a well-defined lucent defect with bony fragment inside was observed in the distal femoral medial cortex. At 1 year, this bony fragment gradually vanished but varus deformity progressed and reached approximately 40 degrees at the age of 2. After removal of the lesion, osteotomy and immobilization was performed with Ilizarov external fixator comprising rings, rods and wires. Complete bone union was achieved 3 months after operation. It is noteworthy that we could observe the initial radiological changes of FFCD before varus deformity occurred. As far as we know, there have been no descriptions of the bony fragment inside a lucent defect of the lesion. Radiological features may vary in the early phase of FFCD. PMID:18679004

  11. Fibrofatty Changes: Incidence at Cardiac MR Imaging in Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.

    PubMed

    Rastegar, Neda; Te Riele, Anneline S J M; James, Cynthia A; Bhonsale, Aditya; Murray, Brittney; Tichnell, Crystal; Calkins, Hugh; Tandri, Harikrishna; Bluemke, David A; Kamel, Ihab R; Zimmerman, Stefan L

    2016-08-01

    Purpose To determine the incidence of ventricular fatty replacement and late gadolinium enhancement (LGE) at cardiac magnetic resonance (MR) imaging in patients with arrhythmogenic right ventricular (RV) dysplasia/cardiomyopathy (ARVD/C) and the relationship of these findings to disease severity. Materials and Methods This was a retrospective institutional review board-approved HIPAA-compliant study. All subjects provided written informed consent. Seventy-six patients with ARVD/C were enrolled from 2002 to 2012. Quantitative and qualitative cardiac MR imaging analyses of the RV and the left ventricle (LV) were performed to determine cardiac MR imaging-specific Task Force Criteria (TFC) and non-TFC features (ARVD/C-type pattern of fatty infiltration and/or nonischemic pattern LGE). Patients were separated into four groups on the basis of cardiac MR imaging TFC: (a) patients with major cardiac MR imaging criteria, (b) patients with minor criteria, (c) patients with partial criteria, and (d) patients with no criterion. Continuous variables were compared by using the independent Student t test and analysis of variance. Categoric variables were compared by using the Fisher exact test. Results Of 76 patients (mean age, 34.2 years ± 14 [standard deviation]; 51.3% men), 42 met major cardiac MR imaging criteria, seven met minor criteria, seven met partial criteria, and 20 met no criterion. Most probands (36 [80.0%] of 45) met major or minor cardiac MR imaging criteria. Only 13 (41.9%) of 31 family members met any cardiac MR imaging criterion. The most common non-TFC MR imaging features were RV fatty infiltration (28.9%) and LV LGE (35.5%). Non-TFC cardiac MR imaging features were seen in 88.1% of subjects with major criteria, in 28.6% of those with minor criteria, in 71.4% of those with partial criteria, and in 10.0% of those with no criteria. Conclusion In this large cohort of patients with ARVD/C, non-TFC findings of ventricular fatty infiltration and LGE were frequent

  12. Full mouth implant rehabilitation of a patient with ectodermal dysplasia after orthognathic surgery, sinus and ridge augmentation: a clinical report

    PubMed Central

    Bayat, Mohammad; Khobyari, Mohammad Mohsen; Dalband, Mohsen

    2011-01-01

    An 18-year-old male presented severe hypodontia due to hypohidrotic ectodermal dysplasia was treated with Le Fort I maxillary osteotomy with simultaneous sinus floor augmentation using the mixture of cortical autogenous bone graft harvested from iliac crest and organic Bio-Oss to position the maxilla in a right occlusal plane with respect to the mandible, and to construct adequate bone volume at posterior maxilla allowing proper implant placement. Due to the poor bone quality at other sites, ridge augmentation with onlay graft was done to construct adequate bone volume allowing proper implant placement, using tissue harvested from the iliac bone. Seven implants were placed in the maxilla and 7 implants were inserted in the mandible and screw-retained metal ceramic FPDs were fabricated. The two year follow up data showed that dental implants should be considered as a good treatment modality for patients with ectodermal dysplasia. PMID:21814619

  13. Prosthodontic Management of Hypohidrotic Ectodermal Dysplasia with Anodontia: A Case Report in Pediatric Patient and Review of Literature

    PubMed Central

    Ladda, R; Gangadhar, SA; Kasat, VO; Bhandari, AJ

    2013-01-01

    Ectodermal dysplasias are rare hereditary disorders characterized by abnormal development of certain tissues and structures of ectodermal origin. The condition is important for dentists as it affects teeth resulting in hypodontia or anodontia and dentist plays an important role in rehabilitation of the patient. Affected young children with anodontia not only have difficulties in eating and speaking but can also feel that they look different from their contemporaries. Well-fitting and functioning prosthesis could be a great help during their schooling years as it will improve appearance and thus boost their self confidence. We report a case of hypohidrotic ectodermal dysplasia in an 8-year-old boy who exhibited anodontia and was successfully rehabilitated with conventional complete dentures in both maxillary and mandibular arches. The aim of the treatment was to improve psychological development apart from promoting better functioning of the stomatognathic system. PMID:23919206

  14. Less invasive modified Spitzy shelf procedure for patients with dysplasia of the hip.

    PubMed

    Okanoue, Yusuke; Kawakami, Teruhiko; Izumi, Masashi; Aso, Koji; Sugimura, Natsuki; Ikeuchi, Masahiko

    2015-05-01

    The shelf procedure for developmental dysplasia of the hip (DDH) is a simpler technique compared with periarticular acetabular osteotomies. However, the most commonly used approach involves the exposure of a large section of the outer iliac surface via a long skin incision and is relatively invasive. We have developed a mini one-incision technique for shelf procedure using bioabsorbable material, based on a modified Spitzy method. In the present report, we describe this procedure and outcomes. For the procedure, the patients are positioned in the lateral position and a 6-8-cm skin incision is made. The interval between the gluteus medius and the tensor fascia lata is developed without any muscle splitting. Thereafter, image intensification is used for accurate positioning of a slot for the new shelf, and a bone graft for the new shelf is obtained from the internal cortex of the iliac wing. The patient is then positioned with the hip in flexion; through the same sliding skin incision, the bone graft is impacted into the slot, and bioabsorbable screws or plates are implanted to cover and stabilise the new shelf. Cancellous bone chips are packed into the triangular space surrounded by the outer iliac surface, the new shelf, and the bioabsorbable screws or plate. We performed this procedure in 9 patients (12 hips). No progression of osteoarthritis was observed during the follow-up period (mean 28 months). The advantages of this procedure include the small, single, skin incision and minimal removal of the gluteus medius from the outer iliac surface. Based on our results, we believe that this procedure could be effective for the treatment of DDH. PMID:25205470

  15. Malignant transformation in monostotic fibrous dysplasia: clinical features, imaging features, outcomes in 10 patients, and review.

    PubMed

    Qu, Nan; Yao, Weiwu; Cui, Xiaojiang; Zhang, Huizhen

    2015-01-01

    Malignant transformation in fibrous dysplasia (FD) is uncommon. The purpose of this study was to investigate clinical and imaging features, and outcomes of malignant transformation in monostotic FD.Data for 10 pathologically confirmed malignant transformations in monostotic FD from January 2005 to December 2013 were retrospectively reviewed. Patient data were recorded, and radiographs (n = 10), computed tomography (CT) (n = 5), magnetic resonance (MR) (n = 4), and bone scintigrams (n = 10) were evaluated for lesion location, margin, cortical destruction, marrow involvement, periosteal reaction, and soft tissue mass by 2 musculoskeletal radiologists with agreement by consensus. Clinical features, management, and prognosis were also analyzed for each of the 10 cases.There were 8 male and 2 female patients (mean age 46.5 ± 15.9 years). The affected sites were the femur (n = 4), humerus (n = 2), tibia (n = 3), and ilium (n = 1). Five cases had received previous surgery and 5 cases had no history of surgery. No patients had been given prior irradiation treatment. For the 5 cases with surgery, radiographs and CT showed purely osteolytic lesions with poor margination in the curettage area (n = 5), cortical destruction (n = 5), obvious soft tissue mass (n = 1), and mineralization (n = 2). For the 5 cases without surgery, radiographs and CT identified poorly marginated, osteolytic lesions within or near the area with "ground-glass" opacity (n = 4), cortical erosion (n = 4), and mineralization (n = 2). Magnetic resonance imaging (MRI) also identified lesions with heterogeneous signal intensity and pronounced enhancement. Bone scintigraphy revealed eccentric increased uptake of radionuclide in monostotic lesion (n = 10). Pathology reports revealed osteosarcoma (n = 7), fibrosarcoma (n = 2), and malignant fibrous histiocytoma (MFH) (n = 1). At the end of the study, 1 patient died from tumors, 1

  16. Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients.

    PubMed

    Esseltine, Jessica L; Shao, Qing; Huang, Tao; Kelly, John J; Sampson, Jacinda; Laird, Dale W

    2015-11-15

    Oculodentodigital dysplasia (ODDD) is primarily an autosomal dominant disorder linked to over 70 GJA1 gene [connexin43 (Cx43)] mutations. For nearly a decade, our laboratory has been investigating the relationship between Cx43 and ODDD by expressing disease-linked mutants in reference cells, tissue-relevant cell lines, 3D organ cultures and by using genetically modified mouse models of human disease. Although salient features of Cx43 mutants have been revealed, these models do not necessarily reflect the complexity of the human context. To further overcome these limitations, we have acquired dermal fibroblasts from two ODDD-affected individuals harbouring D3N and V216L mutations in Cx43, along with familial controls. Using these ODDD patient dermal fibroblasts, which naturally produce less GJA1 gene product, along with RNAi and RNA activation (RNAa) approaches, we show that manipulating Cx43 expression triggers cellular gene reprogramming. Quantitative RT-PCR, Western blot and immunofluorescent analysis of ODDD patient fibroblasts show unusually high levels of extracellular matrix (ECM)-interacting proteins, including integrin α5β1, matrix metalloproteinases as well as secreted ECM proteins collagen-I and laminin. Cx43 knockdown in familial control cells produces similar effects on ECM expression, whereas Cx43 transcriptional up-regulation using RNAa decreases production of collagen-I. Interestingly, the enhanced levels of ECM-associated proteins in ODDD V216L fibroblasts is not only a consequence of increased ECM gene expression, but also due to an apparent deficit in collagen-I secretion which may further contribute to impaired collagen gel contraction in ODDD fibroblasts. These findings further illuminate the altered function of Cx43 in ODDD-affected individuals and highlight the impact of manipulating Cx43 expression in human cells. PMID:26349540

  17. Surveillance colonoscopy for colitis-associated dysplasia and cancer in ulcerative colitis patients.

    PubMed

    Hata, Keisuke; Kishikawa, Junko; Anzai, Hiroyuki; Shinagawa, Takahide; Kazama, Shinsuke; Ishii, Hiroaki; Nozawa, Hiroaki; Kawai, Kazushige; Kiyomatsu, Tomomichi; Tanaka, Junichiro; Tanaka, Toshiaki; Nishikawa, Takeshi; Otani, Kensuke; Yasuda, Koji; Yamaguchi, Hironori; Ishihara, Soichiro; Sunami, Eiji; Kitayama, Joji; Watanabe, Toshiaki

    2016-04-01

    Long-standing ulcerative colitis patients are known to be at high risk for the development of colorectal cancer. Therefore, surveillance colonoscopy has been recommended for these patients. Because colitis-associated colorectal cancer may be difficult to identify even by colonoscopy, a random biopsy method has been recommended. However, the procedure of carrying out a random biopsy is tedious and its effectiveness has also not yet been demonstrated. Instead, targeted biopsy with chromoendoscopy has gained popularity in European and Asian countries. Chromoendoscopy is generally considered to be an effective tool for ulcerative colitis surveillance and is recommended in the guidelines of the British Society of Gastroenterology and the European Crohn's and Colitis Organisation. Although image-enhanced endoscopy, such as narrow-band imaging and autofluorescence imaging, has been investigated as a potential ulcerative colitis surveillance tool, it is not routinely applied for ulcerative colitis surveillance in its present form. The appropriate intervals of surveillance colonoscopy have yet to be determined. Although the Japanese and American guidelines recommend annual or biannual colonoscopy, the British Society of Gastroenterology and the European Crohn's and Colitis Organisation stratified their guidelines according to the risks of colorectal cancer. A randomized controlled trial comparing random and targeted biopsy methods has been conducted in Japan and although the final analysis is still ongoing, the results of this study should address this issue. In the present review, we focus on the current detection methods and characterization of dysplasia/cancer and discuss the appropriate intervals of colonoscopy according to the stratified risks. PMID:26096182

  18. Phenotypic expressions of a Gly154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD)

    SciTech Connect

    Kaitila, I.; Marttinen, E.; Koerkkoe, J.; Ala-Kokko, L.

    1996-05-03

    Type II collagenopathies consist of chondrodysplasia ranging from lethal to mild in severity. A large number of mutations has been found in the COL2A1 gene. Glycine substitutions have been the most common types of mutation. Genotype-phenotype correlations in type II collagenopathies have not been established, partly because of insufficient clinical and radiographic description of the patients. We found a glycine-to-arginine substitution at position 154 in type II collagen in two unrelated isolated propositi with spondyloepimetaphyseal dysplasia and provide a comparative clinical and radiographic analysis from birth to young adulthood for this condition. The clinical phenotype was disproportionate short stature with varus/valgus deformities of the lower limbs requiring corrective osteotomies, and lumbar lordosis. The skeletal radiographs showed an evolution from short tubular bones, delayed epiphyseal development, and mild vertebral involvement to severe metaphyseal dysplasia with dappling irregularities, and hip {open_quotes}dysplasia.{close_quotes} The metaphyseal abnormalities disappeared by adulthood. 27 refs., 11 figs., 1 tab.

  19. Dysplasia of the contralateral hip in patients with unilateral late-detected congenital dislocation of the hip: 50 years' follow-up of 48 patients.

    PubMed

    Terjesen, T

    2014-09-01

    The aim of this study was to investigate the incidence of dysplasia in the 'normal' contralateral hip in patients with unilateral developmental dislocation of the hip (DDH) and to evaluate the long-term prognosis of such hips. A total of 48 patients (40 girls and eight boys) were treated for late-detected unilateral DDH between 1958 and 1962. After preliminary skin traction, closed reduction was achieved at a mean age of 17.8 months (4 to 65) in all except one patient who needed open reduction. In 25 patients early derotation femoral osteotomy of the contralateral hip had been undertaken within three years of reduction, and later surgery in ten patients. Radiographs taken during childhood and adulthood were reviewed. The mean age of the patients was 50.9 years (43 to 55) at the time of the latest radiological review. In all, eight patients (17%) developed dysplasia of the contralateral hip, defined as a centre-edge (CE) angle < 20° during childhood or at skeletal maturity. Six of these patients underwent surgery to improve cover of the femoral head; the dysplasia improved in two after varus femoral osteotomy and in two after an acetabular shelf operation. During long-term follow-up the dysplasia deteriorated to subluxation in two patients (CE angles 4° and 5°, respectively) who both developed osteoarthritis (OA), and one of these underwent total hip replacement at the age of 49 years. In conclusion, the long-term prognosis for the contralateral hip was relatively good, as OA occurred in only two hips (4%) at a mean follow-up of 50 years. Regular review of the 'normal' side is indicated, and corrective surgery should be undertaken in those who develop subluxation. PMID:25183584

  20. Ectodermal dysplasia

    MedlinePlus

    ... development of the skin, hair, nails, teeth, or sweat glands. Causes There are many different types of ... equally. Symptoms People with ectodermal dysplasia may not sweat or may have decreased sweating because of a ...

  1. Cervical dysplasia

    MedlinePlus

    Cervical intraepithelial neoplasia (CIN); Precancerous changes of the cervix; Cervical cancer - dysplasia ... lesion (SIL). On the Pap smear report, these changes will be described as: Low-grade (LSIL) High- ...

  2. Patterson-Lowry rhizomelic dysplasia: a potentially lethal bone dysplasia?

    PubMed

    Kamoda, T; Nakajima, R; Matsui, A; Nishimura, G

    2001-02-01

    We report a Japanese boy, who is considered as having Patterson-Lowry rhizomelic dysplasia, a rare, as yet undefined, skeletal dysplasia. The diagnosis was warranted by the constellation of skeletal abnormalities - mild platyspondyly, hypoplastic ilia, broad proximal femora with prominent lesser trochanters, mild brachymetacarpalia and, most importantly, rhizomelic shortening of the upper limbs with lateral bowing, medial cortical thickening, and medial metaphyseal notching of the humeri. Our patient, unlike previously reported patients, had respiratory distress and died suddenly of unknown cause in late infancy. Our experience may imply the heterogeneity or phenotypic variability of Patterson-Lowry rhizomelic dysplasia. PMID:11214690

  3. Endonasal dacryocystorhinostomy in a pediatric patient with ectrodactyly-ectodermal dysplasia after failure of external dacryocystorhinostomy and as first procedure.

    PubMed

    Sacchi, Matteo; Serafino, Massimiliano; Dragonetti, Alberto; Lembo, Andrea; Nucci, Paolo

    2013-01-01

    A 9-year-old patient affected by ectrodactyly-ectodermal dysplasia was referred to our clinic complaining of epiphora in both eyes. She had previous external dacryocystorhinostomy in her left eye. Ophthalmic examination revealed absence of the superior tear ducts and discharge in both eyes. Lacrimal irrigation through the inferior canaliculi revealed nasolacrimal duct obstruction on both sides. A bilateral endo-dacryocystorhinostomy was performed as a revision procedure in the left eye and as first procedure in the right eye. A monocanalicular silicone stent through the inferior tear duct was introduced on both sides at the end of the surgery. Follow up was 8 and 5 months for the left and the right eye, respectively. Epiphora was absent, and lacrimal irrigation showed a patent osteum at last follow-up. This case suggests that endo-dacryocystorhinostomy seems to be a safe and effective procedure, both as revision and as first procedure, even in children with ectrodactyly-ectodermal dysplasia. PMID:23128529

  4. Implication of acetabular width on the anteroposterior pelvic radiograph of patients with developmental dysplasia of the hip.

    PubMed

    Nie, Yong; Pei, Fuxing; Shen, Bin; Kang, Pengde; Li, Zongming

    2015-03-01

    Radiographic parameters that can help acetabular reconstruction during total hip arthroplasty (THA) for patients with developmental dysplasia of the hip (DDH) are few. The radiographs of 138 dysplastic hips that had undergone cementless THA were evaluated regarding the acetabular width above the acetabular component and the coverage of the component by native bone. The acetabular reconstruction process was simulated using 3D models from CT data, and the acetabular component coverage was calculated in 3D space based on the measurement and algorithm we proposed. Significant positive correlation between the acetabular width and the acetabular component coverage was found. Our study introduced a useful parameter, which can mark the superior reference position of the acetabular component for acetabular reconstruction in DDH patients. PMID:25311162

  5. Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias

    PubMed Central

    Panda, Ananya; Gamanagatti, Shivanand; Jana, Manisha; Gupta, Arun Kumar

    2014-01-01

    Skeletal dysplasias are not uncommon entities and a radiologist is likely to encounter a suspected case of dysplasia in his practice. The correct and early diagnosis of dysplasia is important for management of complications and for future genetic counselling. While there is an exhaustive classification system on dysplasias, it is important to be familiar with the radiological features of common dysplasias. In this article, we enumerate a radiographic approach to skeletal dysplasias, describe the essential as well as differentiating features of common non-lethal skeletal dysplasias and conclude by presenting working algorithms to either definitively diagnose a particular dysplasia or suggest the most likely differential diagnoses to the referring clinician and thus direct further workup of the patient. PMID:25349664

  6. Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias.

    PubMed

    Panda, Ananya; Gamanagatti, Shivanand; Jana, Manisha; Gupta, Arun Kumar

    2014-10-28

    Skeletal dysplasias are not uncommon entities and a radiologist is likely to encounter a suspected case of dysplasia in his practice. The correct and early diagnosis of dysplasia is important for management of complications and for future genetic counselling. While there is an exhaustive classification system on dysplasias, it is important to be familiar with the radiological features of common dysplasias. In this article, we enumerate a radiographic approach to skeletal dysplasias, describe the essential as well as differentiating features of common non-lethal skeletal dysplasias and conclude by presenting working algorithms to either definitively diagnose a particular dysplasia or suggest the most likely differential diagnoses to the referring clinician and thus direct further workup of the patient. PMID:25349664

  7. Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV) is a developmental disorder of the lungs, primarily affecting their vasculature. FOXF1 haploinsufficiency due to heterozygous genomic deletions and point mutations have been reported in most patients with ACDMPV. The majority...

  8. Fibrous dysplasia

    MedlinePlus

    ... page, please enable JavaScript. Fibrous dysplasia is a bone disease that destroys and replaces normal bone with fibrous ... A.M. Editorial team. Related MedlinePlus Health Topics Bone Diseases Browse the Encyclopedia A.D.A.M., Inc. ...

  9. Kidney Dysplasia

    MedlinePlus

    ... Dimes National Kidney Foundation Urology Care Foundation MedlinePlus Kidney and Urologic Disease Organizations Many organizations provide support ... Disease Organizations​​ . (PDF, 345 KB)​​​​​ Alternate Language URL Kidney Dysplasia Page Content On this page: What is ...

  10. Hypohidrotic Ectodermal Dysplasia: Prosthetic and Endodontic Management

    PubMed Central

    Jain, Sandhya; Kumar, Alok; Rahangdale, Tripty

    2010-01-01

    Individuals affected by ectodermal dysplasia syndromes have abnormalities of the glands, tooth buds, hair follicles, and nail development. Oral finding in ectodermal dysplasia patient are significant and can include multiple abnormalities of the dentition such as anodontia, hy-podontia or malformed and widely spaced peg like teeth, loss of occlusal vertical dimension, protuberant lips and lack of normal alveolar ridge development. This clinical report describes a combined surgical, pedodontic, and prosthodontic approach for the treatment of a patient with hypohidrotic ectodermal dysplasia.

  11. Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development.

    PubMed

    Ozer, Leyla; Unsal, Evrim; Aktuna, Suleyman; Baltaci, Volkan; Celikkol, Pelin; Akyigit, Fatma; Sen, Askin; Ayvaz, Ozge; Balci, Sevim

    2016-07-01

    Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and skeletal anomalies. MAD patients are classified according to lipodystrophy patterns: type A and type B. The vast majority of MAD cases are caused by LMNA gene mutations. MAD patients with type A lipodystrophy (MADA) have been reported to have LMNA R527H, A529V, or A529T mutations. In this report, we describe two MADA patients with progressive skeletal changes, absent breast development, and cataract in addition to the classical MAD phenotype. Both patients were found to be homozygous for the Ala529Val mutation of the LMNA gene. Our female patient is the oldest MADA patient (59 years old) who has ever been reported with the LMNA mutation and also the LMNA Ala529Val mutation. This study is the second report on MADA patients with a homozygous Ala529Val mutation. PMID:27100822

  12. Quantitative proteomics of the human skin secretome reveal a reduction in immune defense mediators in ectodermal dysplasia patients.

    PubMed

    Burian, Marc; Velic, Ana; Matic, Katarina; Günther, Stephanie; Kraft, Beatrice; Gonser, Lena; Forchhammer, Stephan; Tiffert, Yvonne; Naumer, Christian; Krohn, Michael; Berneburg, Mark; Yazdi, Amir S; Maček, Boris; Schittek, Birgit

    2015-03-01

    In healthy human skin host defense molecules such as antimicrobial peptides (AMPs) contribute to skin immune homeostasis. In patients with the congenital disease ectodermal dysplasia (ED) skin integrity is disturbed and as a result patients have recurrent skin infections. The disease is characterized by developmental abnormalities of ectodermal derivatives and absent or reduced sweating. We hypothesized that ED patients have a reduced skin immune defense because of the reduced ability to sweat. Therefore, we performed a label-free quantitative proteome analysis of wash solution of human skin from ED patients or healthy individuals. A clear-cut difference between both cohorts could be observed in cellular processes related to immunity and host defense. In line with the extensive underrepresentation of proteins of the immune system, dermcidin, a sweat-derived AMP, was reduced in its abundance in the skin secretome of ED patients. In contrast, proteins involved in metabolic/catabolic and biosynthetic processes were enriched in the skin secretome of ED patients. In summary, our proteome profiling provides insights into the actual situation of healthy versus diseased skin. The systematic reduction in immune system and defense-related proteins may contribute to the high susceptibility of ED patients to skin infections and altered skin colonization. PMID:25347115

  13. Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up

    PubMed Central

    Jasiewicz, Barbara; Potaczek, Tomasz; Duda, Sławomir; Tęsiorowski, Maciej

    2015-01-01

    Cervical kyphosis in diastrophic dysplasia (DTD) is a very dangerous deformity which may lead to compression of neural structures resulting in tetraplegia or even. Treatment of this deformity is usually surgical, but no long-term follow-up studies are presented in the literature. Authors present a case of two children with DTD who underwent anterior corpectomy due to severe cervical kyphosis. The kyphotic deformity was corrected and the normal spinal canal width was restored. The effects of the correction remained stable for respectively 6 and 10 years of the follow-up period. The unique follow-up confirms that this type of intervention leads to an effective and long lasting results. Significant cervical kyphosis in patients suffering from DTD may be treated surgically using anterior approach even in young children with a favorable and lasting results. PMID:26692703

  14. A Novel and Easy Approach for Contouring Surgery in Patients With Craniofacial Fibrous Dysplasia.

    PubMed

    Kang, Seok Joo; Oh, Min Joon; Jeon, Seong Pin

    2015-09-01

    Although the bone-shaving procedure is the optimal alternative treatment of craniofacial fibrous dysplasia affecting the maxilla and zygoma, it is difficult to determine the appropriate amount of bone to be removed. The authors therefore developed a novel method for bone shaving using three-dimensional printing technology on computed tomography (CT) scans and screws as a guide. In our method, we implanted screws of predetermined lengths into surgical sites and then performed a burring within the visual field. By using screws, the exact amount of bone could be removed, as determined preoperatively. Thus, the operation time was shorted and the method was less effort intensive. Moreover, this procedure had reduced risk of radiation exposure owing to frequent use of CT, and had a low cost. This simple new method is more precise and effective, and shows satisfactory cosmetic outcomes than those with current bone-shaving practices. PMID:26192030

  15. Patient-specific Analysis of Cartilage and Labrum Mechanics in Human Hips with Acetabular Dysplasia

    PubMed Central

    Henak, Corinne R; Abraham, Christine L; Anderson, Andrew E; Maas, Steve A; Ellis, Benjamin J; Peters, Christopher L; Weiss, Jeffrey A

    2014-01-01

    BACKGROUND Acetabular dysplasia is a major predisposing factor for development of hip osteoarthritis, and may result from alterations to chondrolabral loading. Subject-specific finite element (FE) modeling can be used to evaluate chondrolabral mechanics in the dysplastic hip, thereby providing insight into mechanics that precede osteoarthritis. OBJECTIVE To evaluate chondrolabral contact mechanics and congruency in dysplastic hips and normal hips using a validated approach to subject-specific FE modeling. METHODS FE models of ten subjects with normal acetabula and ten subjects with dysplasia were constructed using a previously validated protocol. Labrum load support, and labrum and acetabular cartilage contact stress and contact area were compared between groups. Local congruency was determined at the articular surface for two simulated activities. RESULTS The labrum in dysplastic hips supported 2.8 to 4.0 times more of the load transferred across the joint than in normal hips. Dysplastic hips did not have significantly different congruency in the primary load-bearing regions than normal hips, but were less congruent in some unloaded regions. Normal hips had larger cartilage contact stress than dysplastic hips in the few regions that had significant differences. CONCLUSIONS The labrum in dysplastic hips has a far more significant role in hip mechanics than it does in normal hips. The dysplastic hip is neither less congruent than the normal hip, nor subjected to elevated cartilage contact stresses. This study supports the concept of an outside-in pathogenesis of osteoarthritis in dysplastic hips and that the labrum in dysplastic hips should be preserved during surgery. PMID:24269633

  16. Arrhythmogenic Right Ventricular Dysplasia

    MedlinePlus

    MENU Return to Web version Arrhythmogenic Right Ventricular Dysplasia Overview What is arrhythmogenic right ventricular dysplasia? Arrhythmogenic right ventricular dysplasia (say: “uh-rith-mo-jen-ic right ven-trick- ...

  17. Detection superiority of 7 T MRI protocol in patients with epilepsy and suspected focal cortical dysplasia.

    PubMed

    Colon, A J; van Osch, M J P; Buijs, M; Grond, J V D; Boon, P; van Buchem, M A; Hofman, P A M

    2016-09-01

    In 11 adult patients with suspicion of Focal cortical dysplasia (FCD) on 1.5 T (n = 1) or 3 T (n = 10) magnetic resonance imaging (MRI), 7 T MRI was performed. Visibility, extent, morphological features and delineation were independently rated and subsequently discussed by three observers. Additionally, head-to-head comparisons with corresponding 3 T images were made in the eight patients with a previous 3 T MRI and sustained suspicion of FCD. Comparison with histopathology was done in the five patients that underwent surgery. All lesions, seen at 1.5 and 3 T, were also recognized on 7 T. At 7 T FLAIR highlighted the FCD-like lesions best, whereas T2 and T2* were deemed better suited to review structure and extent of the lesion. Image quality with the used 7 T MRI setup was higher than the quality with the used 3 T MRI setup. In 2 out of 11 patients diagnosis changed, in one after re-evaluation of the images, and in the other based on histopathology. With the used 7 T MRI setup, FCD-like lesions can be detected with more confidence and detail as compared to lower field strength. However, concordance between radiologic diagnosis and final diagnosis seems to be lower than expected. PMID:27389578

  18. Accelerated idioventricular rhythm of infundibular origin in patients with a concealed form of arrhythmogenic right ventricular dysplasia.

    PubMed Central

    Martini, B; Nava, A; Thiene, G; Buja, G F; Canciani, B; Miraglia, G; Scognamiglio, R; Boffa, G M; Daliento, L

    1988-01-01

    Five apparently healthy people (aged 16-47) presented with recurrent episodes of accelerated idioventricular rhythm characterised by left bundle branch block and right axis deviation. Clinical history, physical findings, basic electrocardiogram, chest x ray, and blood tests were within normal limits in all. Holter monitoring, exercise stress test, and electrophysiological study (in three patients) showed that accelerated idioventricular rhythm was mainly bradycardia dependent, easily suppressed by effort and overdrive pacing, and originated from the outflow tract of the right ventricle. The mechanism could be enhanced automaticity. Data from cross sectional echocardiography (in all patients) and from haemodynamic evaluation (in three) identified structural or wall motion abnormalities of the right ventricle or both without appreciable dilatation of the ventricle. Biopsy specimens of the right ventricular endomyocardium showed fibrosis in one patient, fibrosis and fatty infiltration in the second, and pronounced fatty infiltration in the third. These results show that some patients with accelerated idioventricular rhythm have right ventricular abnormalities that are typical of the localised and concealed forms of arrhythmogenic right ventricular dysplasia. Images Fig 1 Fig 2 Fig 3 Fig 4 Fig 5 PMID:3382568

  19. Rootless teeth: Dentin dysplasia type I

    PubMed Central

    Fulari, Sangamesh G; Tambake, Deepti P

    2013-01-01

    A rare case of hereditary disturbance of dentine, Dentin dysplasia type I is presented, which is characterized by short or total absence of roots, obliterated pulp chambers, and peri-apical radiolucencies. It affects both primary and secondary dentition. Management of patients with dentinal dysplasia is difficult and requires a multidisciplinary approach. An overview of dentin dysplasia and its management along with a case report is discussed. PMID:24403801

  20. Mesenchymal dysplasia of placenta.

    PubMed

    Balachandran Nair, Krishna G; Srinish, Minu; Balan, Preesha; Sadasivan, Santha

    2015-01-01

    A rare case of placental mesenchymal dysplasia (PMD) in a 26-year-old patient is reported. Ultrasound scan at 17 weeks of gestation showed placenta with multiple cystic spaces and a normal appearing fetus. Following delivery of a term live baby, histological examination of the placenta was suggestive of PMD. The early recognition of this rare condition by characteristic ultrasonographic findings is herein emphasized and hence that PMD is distinguished from molar pregnancy. PMID:26275269

  1. Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.

    PubMed

    Macías-Gómez, Nelly Margarita; Mégarbané, André; Leal-Ugarte, Evelia; Rodríguez-Rojas, Lisa Ximena; Barros-Núñez, Patricio

    2004-08-30

    The osteochondrodysplasias represent a heterogeneous group of cartilage and bone diseases. Among these, achondrogenesis 1B, atelosteogenesis type II, diastrophic dysplasia, and autosomal recessive multiple epiphyseal dysplasia are caused by mutations in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2). This group of osteochondrodysplasias shows a continuous spectrum of clinical variability and shares many features in common. Usually, it is difficult to distinguish clinically among these patients. To date, several efforts have been made to correlate mutations in the SLC26A2 gene with phenotypic severity in the patients. We report on a Mexican girl with diastrophic dysplasia presenting some unusual clinical and radiographic features that are usually observed in atelosteogenesis type II. Molecular analysis of the SLC26A2 gene in this patient showed compound heterozygosity for the R178X and R279W mutations. In this patient, the combination of a mild and a severe mutation has apparently led to an intermediate or transitional clinical picture, showing an apparent genotype-phenotype correlation. PMID:15316973

  2. Skeletal dysplasias.

    PubMed

    Krakow, Deborah

    2015-06-01

    The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion, radiographic abnormalities, and occasionally other organ system abnormalities. For improved clinical care, it is important to determine a precise diagnosis to aid in management, familial recurrence, and identify those disorders highly associated with mortality. Long-term management of these disorders is predicated on an understanding of the associated skeletal system abnormalities, and these children are best served by a team approach to health care surveillance. PMID:26042906

  3. Skeletal Dysplasias

    PubMed Central

    Krakow, Deborah

    2015-01-01

    Synoposis The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion, radiographic abnormalities, and occasionally other organ system abnormalities. For improved clinical care it is important to determine a precise diagnosis to aid in management, familial recurrence and identify those disorders highly associated with mortality. Long-term management of these disorders is predicated on an understanding of the associated skeletal system abnormalities and these children are best served by a team approach to health care surveillance. PMID:26042906

  4. de la Chapelle dysplasia.

    PubMed

    Whitley, C B; Burke, B A; Granroth, G; Gorlin, R J

    1986-09-01

    Since the description by de la Chapelle and colleagues of two sibs with a unique skeletal dysplasia, two additional cases have occurred, one in the original Finnish family and one sporadic patient born to unrelated parents of Belgian descent. The original Finnish family has later had a fourth child, a normal daughter who was found to be unaffected upon radiographic examination in the 19th week of gestation. These additional findings are compatible with recessive inheritance. Physical features common to these four patients include cleft palate, small thorax, moderately severe micromelia with small hands, and equinovarus deformity. In each case, the ulnae and fibulae were reduced to an almost triangular osseous remnant. Other long bones were short and bowed. Neonatal death occurred in all cases and may be attributed to a consistent triad of respiratory tract malformations: laryngeal stenosis, tracheobronchomalacia, and pulmonary hypoplasia. Clinical and radiographic features are sufficiently unique to distinguish de la Chapelle dysplasia from other disorders in the spectrum of neonatal lethal osteochondrodysplasias. Lacunar halos were identified as a distinctive histopathologic feature also observed in achondrogenesis but not in several other skeletal dysplasias. PMID:3799721

  5. Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia.

    PubMed

    Schild, Raphael; Knüppel, Tanja; Konrad, Martin; Bergmann, Carsten; Trautmann, Agnes; Kemper, Markus J; Wu, Kongming; Yaklichkin, Sergey; Wang, Jing; Pestell, Richard; Müller-Wiefel, Dirk E; Schaefer, Franz; Weber, Stefanie

    2013-01-01

    Renal hypodysplasia (RHD) is characterized by small and/or disorganized kidneys following abnormal organogenesis. Mutations in several genes have been identified recently to be associated with RHD in humans, including BMP4, a member of the transforming growth factor (TGF)-β family of growth factors. DACH1 has been proposed as a candidate gene for RHD because of its involvement in the EYA-SIX-DACH network of renal developmental genes. Here, we present a patient with renal dysplasia carrying homozygous missense mutations in both BMP4 (p.N150K) and DACH1 (p.R684C). The genotype-phenotype correlation in the family hints at an oligogenic mode of inheritance of the disease in this kindred. Functional analyses of the identified DACH1 mutation in HEK293T cells demonstrated enhanced suppression of the TGF-β pathway suggesting that both mutations could act synergistically in the development of the phenotype in this patient. This finding provides a model for RHD as an oligo-/polygenic disorder and supports a role for DACH1 in the development of RHD in humans. PMID:23262432

  6. Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia.

    PubMed

    Shibayama, Junko; Paznekas, William; Seki, Akiko; Taffet, Steven; Jabs, Ethylin Wang; Delmar, Mario; Musa, Hassan

    2005-05-27

    Specific mutations in GJA1, the gene encoding the gap junction protein connexin43 (Cx43), cause an autosomal dominant disorder called oculodentodigital dysplasia (ODDD). Here, we characterize the effects of 8 of these mutations on Cx43 function. Immunochemical studies have shown that most of the mutant proteins formed gap junction plaques at the sites of cell-cell apposition. However, 2 of the mutations (a codon duplication in the first extracellular loop, F52dup, and a missense mutation in the second extracellular loop, R202H, produced full-length connexins that failed to properly form gap junction plaques. Cx43 proteins containing ODDD mutations found in the N-terminus (Y17S), first transmembrane domain (G21R, A40V), second transmembrane domain (L90V), and cytoplasmic loop (I130T, K134E) do form gap junction plaques but show compromised channel function. L90V, I130T, and K134E demonstrated a significant decrease in junctional conductance relative to Cx43WT. Mutations Y17S, G21R, and A40V demonstrated a complete lack of functional electrical coupling even in the presence of significant plaque formation between paired cells. Heterologous channels formed by coexpression of Cx43WT and mutation R202H resulted in electrically functional gap junctions that were not permeable to Lucifer yellow. Therefore, the mutations found in ODDD not only cause phenotypic variability, but also result in various functional consequences. Overall, our data show an extensive range of molecular phenotypes, consistent with the pleiotropic nature of the clinical syndrome as a whole. PMID:15879313

  7. White Matter Abnormalities in Patients with Focal Cortical Dysplasia Revealed by Diffusion Tensor Imaging Analysis in a Voxelwise Approach

    PubMed Central

    Fonseca, Viviane de Carvalho; Yasuda, Clarissa Lin; Tedeschi, Guilherme Garlipp; Betting, Luiz Eduardo; Cendes, Fernando

    2012-01-01

    Background: Diffusion tensor imaging (DTI) allows the analysis of changes in microstructure, through the quantification of the spread and direction of water molecules in tissues. We used fractional anisotropy (FA) maps to compare the integrity of WM between patients and controls. The objective of the present study was to investigate WM abnormalities in patients with frontal lobe epilepsy secondary to focal cortical dysplasia (FCD). Materials and Methods: We included 31 controls (12 women, 33.1 ± 9.6 years, mean ± SD) and 22 patients (11 women, 30.4 ± 10.0 years), recruited from our outpatient clinic. They had clinical and EEG diagnosis of frontal lobe epilepsy, secondary to FCD detected on MRI. Patients and controls underwent 3T MRI, including the DTI sequence, obtained in 32 directions and b value of 1000 s/mm2. To process the DTI we used the following softwares: MRIcroN and FSL/TBSS (tract-based spatial statistics). We used a threshold-free cluster enhancement with significance at p < 0.05, fully corrected for multiple comparisons across space. Results: Areas with FA reduction in patients were identified in both hemispheres, mainly in the frontal lobes, cingulum, and forceps minor (p = 0.014), caudate e anterior thalamic radiation (p = 0.034), superior longitudinal fasciculus (p = 0.044), uncinate fasciculus, and inferior fronto-occipital fasciculus (p = 0.042). Conclusion: Our results showed a widespread pattern of WM microstructural abnormalities extending beyond the main lesion seen on MRI (frontal lobe), which may be related to frequent seizures or to the extent of MRI-invisible portion of FCD. PMID:22855684

  8. Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome.

    PubMed

    Bustos, T; Simosa, V; Pinto-Cisternas, J; Abramovits, W; Jolay, L; Rodriguez, L; Fernandez, L; Ramela, M

    1991-12-15

    We describe 27 individuals of 7 families related to each other with high probability who showed manifestations of ectodermal dysplasia and other anomalies affecting females as severely as males with variable expressivity. All parents were normal. These families were detected in a relatively isolated and inbred population with very small neighbouring communities from a Caribbean Sea island, Margarita Island, in Northeastern Venezuela (Nueva Esparta State). The clinical picture common to all patients could not be classified within the heterogeneous group of known ectodermal dysplasias and the published cases do not resemble our patients. We believe that this condition constitutes a newly recognized autosomal recessive dysplasia/malformation syndrome of ectodermal dysplasia. PMID:1776626

  9. Dilemmas in imaging for peri-acetabular osteotomy: the influence of patient position and imaging technique on the radiological features of hip dysplasia.

    PubMed

    Kosuge, D; Cordier, T; Solomon, L B; Howie, D W

    2014-09-01

    Peri-acetabular osteotomy is an established surgical treatment for symptomatic acetabular dysplasia in young adults. An anteroposterior radiograph of the pelvis is commonly used to assess the extent of dysplasia as well as to assess post-operative correction. Radiological prognostic factors include the lateral centre-edge angle, acetabular index, extrusion index and the acetabular version. Standing causes a change in the pelvis tilt which can alter certain radiological measurements relative to the supine position. This article discusses the radiological indices used to assess dysplasia and reviews the effects of patient positioning on these indices with a focus on assessment for a peri-acetabular osteotomy. Intra-operatively, fluoroscopy is commonly used and the implications of using fluoroscopy as a modality to assess the various radiological indices along with the effects of using an anteroposterior or posteroanterior fluoroscopic view are examined. Each of these techniques gives rise to a slightly different image of the pelvis as the final image is sensitive to the position of the pelvis and the projection of the x-ray beam. PMID:25183583

  10. Ocular manifestations of frontonasal dysplasia.

    PubMed

    Roarty, J D; Pron, G E; Siegel-Bartelt, J; Posnick, J C; Buncic, J R

    1994-01-01

    The ophthalmologic findings associated with frontonasal dysplasia have not been defined previously in a large series of untreated children. We reviewed the ophthalmic manifestations of a series of patients with frontonasal dysplasia who were seen as part of their craniofacial evaluation. All had undergone a complete ophthalmologic examination before any manipulation of either the orbits or the soft tissues of the orbital contents. From 1986 to 1991, 23 patients with frontonasal dysplasia were seen; ophthalmologic abnormalities were found in 20 (87 percent). Abnormalities included significant refractive errors, strabismus, nystagmus, and eyelid ptosis. Three patients had amblyopia, a treatable cause of visual loss, from strabismus or anisometropia. Ten eyes in seven patients (30 percent) had severe structural anomalies, such as optic nerve hypoplasia, optic nerve colobomas, microphthalmia, cataract, corneal dermoid, or inflammatory retinopathy, that resulted in an acuity of 20/100 or worse. The high incidence of ocular abnormalities indicates that early assessment by an ophthalmologist should be part of the initial evaluation of patients with frontonasal dysplasia to detect treatable visual or ocular problems. PMID:8278482

  11. Craniofacial fibrous dysplasia.

    PubMed

    Ricalde, Pat; Magliocca, Kelly R; Lee, Janice S

    2012-08-01

    Despite recent advances in the understanding of the natural history and molecular abnormalities, many questions remain surrounding the progression and management of fibrous dysplasia (FD). In the absence of comorbidities, the expected behavior of craniofacial FD (CFD) is to be slow growing and without functional consequence. Understanding of the pathophysiologic mechanisms contributing to the various phenotypes of this condition, as well as the predictors of the different behaviors of FD lesions, must be improved. Long-term follow-up of patients with CFD is vital because spontaneous recovery is unlikely, and the course of disease can be unpredictable. PMID:22771278

  12. Pigmented ganglioglioma in a patient with chronic epilepsy and cortical dysplasia.

    PubMed

    Kerolus, Mena G; Kellogg, Robert G; Novo, Jorge; Arvanitis, Leonidas D; Byrne, Richard W

    2016-02-01

    We report a rare case of a 22-year-old woman with biopsy-proven pigmented ganglioglioma. The patient initially underwent a right temporal lobectomy for intractable seizures at the age of 9 and remained seizure free for several years but subsequently developed complex partial seizures. Due to enhancement of a left mesial occipital lesion on preoperative MRI of the brain, the patient underwent a left subdural electrode placement and simultaneous biopsy of the left mesial occipital lesion. Biopsy results revealed a rare pigmented ganglioglioma, World Health Organization Grade I. The seizure focus was identified in the left mesial occipital lobe and the patient underwent tumor resection. An extensive literature search revealed that our patient is the fourth case of pigmented ganglioglioma described in the literature and was positive for BRAF V600E mutation by molecular studies. PMID:26432496

  13. A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.

    PubMed

    Shimojima, Keiko; Okamoto, Nobuhiko; Yamamoto, Toshiyuki

    2016-04-01

    Recent advances in molecular technology have led to the discovery of several genes related to human malformations of cortical development (MCDs). The beta-tubulin class III gene (TUBB3) was identified as a gene responsible for MCDs. Although mouse-model experiments have not revealed any findings of neuronal migration disorders, human TUBB3 mutations have been identified in patients with congenital fibrosis of the extraocular muscles. Since the discovery of a TUBB3 mutation, only 15 mutations have been identified. In this study, comprehensive mutation screening through next-generation sequencing identified a novel TUBB3 mutation (p.Ser230Leu) in a sporadic patient with moderate developmental delay associated with mild MCD. Compared to patients with the alpha-tubulin class 1a gene (TUBA1A) mutations, patients with TUBB3 mutations show milder phenotypic manifestations and milder MCD. Therefore, patients with milder MCD manifestations may be under-diagnosed, and TUBB3 mutations may be rarely identified. Additional genotype-phenotype information should be accumulated for further understanding of the TUBB3 functional relevance. © 2016 Wiley Periodicals, Inc. PMID:26739025

  14. Oculodentodigital dysplasia.

    PubMed

    Doshi, Dharmil C; Limdi, Purvi K; Parekh, Nilesh V; Gohil, Neepa R

    2016-03-01

    Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo), teeth (dento), and fingers and/or toes (digital). The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood. PMID:27146935

  15. Oculodentodigital dysplasia

    PubMed Central

    Doshi, Dharmil C; Limdi, Purvi K; Parekh, Nilesh V; Gohil, Neepa R

    2016-01-01

    Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo), teeth (dento), and fingers and/or toes (digital). The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood. PMID:27146935

  16. Genetics Home Reference: oculodentodigital dysplasia

    MedlinePlus

    ... Paznekas W, Seki A, Taffet S, Jabs EW, Delmar M, Musa H. Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia. Circ Res. 2005 May 27;96(10):e83-91. Epub 2005 May 5. Citation on PubMed Vreeburg M, de Zwart-Storm EA, Schouten MI, Nellen RG, ...

  17. Therapy-Associated Myeloid Dysplasia in a Long-Surviving Patient with Pancreatic Cancer.

    PubMed

    Suzukida, Jillian; Kaley, Kristin; Raza, Azra; Saif, Muhammad W

    2016-01-01

    Pancreatic cancer remains a diagnosis of poor prognosis with a median survival time of four-six months in patients with advanced stage of the disease. Although, with the development of novel chemotherapy agents some patients are able to live a little longer if they respond to therapy. However, long-term complications of chemotherapy or radiotherapy are not known due to the short survival period of patients with pancreatic cancer. We present a case of a 55-year-old-woman who developed therapy-related myelodysplastic syndrome (t-MDS) during a survival of approximately eight years during which she received multiple chemotherapies and radiation therapy. She presented with progressive fatigue and pancytopenia, which led to further work-up and led to the diagnosis of t-MDS. The latency period to developing hematologic abnormalities as well as the presence of the chromosome 5 and 7 abnormalities in this patient are likely consistent with t-MDS and possibly related to the use of chemotherapeutic agents such as oxaliplatin or irinotecan and radiation therapy. PMID:27555985

  18. Therapy-Associated Myeloid Dysplasia in a Long-Surviving Patient with Pancreatic Cancer

    PubMed Central

    Suzukida, Jillian; Kaley, Kristin; Raza, Azra

    2016-01-01

    Pancreatic cancer remains a diagnosis of poor prognosis with a median survival time of four-six months in patients with advanced stage of the disease. Although, with the development of novel chemotherapy agents some patients are able to live a little longer if they respond to therapy. However, long-term complications of chemotherapy or radiotherapy are not known due to the short survival period of patients with pancreatic cancer. We present a case of a 55-year-old-woman who developed therapy-related myelodysplastic syndrome (t-MDS) during a survival of approximately eight years during which she received multiple chemotherapies and radiation therapy. She presented with progressive fatigue and pancytopenia, which led to further work-up and led to the diagnosis of t-MDS. The latency period to developing hematologic abnormalities as well as the presence of the chromosome 5 and 7 abnormalities in this patient are likely consistent with t-MDS and possibly related to the use of chemotherapeutic agents such as oxaliplatin or irinotecan and radiation therapy. PMID:27555985

  19. Fibrous dysplasia of the orbit.

    PubMed Central

    Bibby, K; McFadzean, R

    1994-01-01

    Twelve patients with fibrous dysplasia of the orbit are reviewed and the ophthalmic findings described. Three case histories are presented in detail. Six patients were managed conservatively; four have shown radiological progression of the disease. Six patients underwent surgery. A conservative procedure, comprising debulking dysplastic bone, was carried out in four--all required further surgery including radical excision in two patients. Two subjects had primary radical operations. No recurrence was encountered in the four patients who had undergone radical surgery. It would appear that fibrous dysplasia is not a disease confined to adolescence but may continue into adulthood, and even middle age. Patients may never require surgery, but require follow up for late progression. If surgical intervention is deemed necessary, an attempt should be made to excise all dysplastic bone, since progression of the disease after conservative surgery is relatively common. Images PMID:8199111

  20. Biological features of bronchial squamous dysplasia followed up by autofluorescence bronchoscopy.

    PubMed

    Hoshino, Hidehisa; Shibuya, Kiyoshi; Chiyo, Masako; Iyoda, Akira; Yoshida, Shigetoshi; Sekine, Yasuo; Iizasa, Toshihiko; Saitoh, Yukio; Baba, Masayuki; Hiroshima, Kenzo; Ohwada, Hidemi; Fujisawa, Takehiko

    2004-11-01

    Some dysplasias in the bronchial epithelium are thought to be precancerous lesions that can develop into squamous cell carcinomas. In this investigation, we assessed the biological behavior of bronchial squamous dysplasia in order to define which dysplasias have the potential to progress to squamous cell carcinoma. Using autofluorescence bronchoscopy, we followed up periodically localized dysplasias and examined for correlation between histological outcome and smoking status during the follow-up period, telomerase activity, Ki-67 labeling index, and p53 immunoreactivity of initial biopsy specimens. Ninety-nine dysplasias from 50 participants mainly with sputum cytology suspicious or positive for malignancy were followed up. Of 99 dysplasias, 3 dysplasias progressed to squamous cell carcinoma, 41 dysplasias remained as dysplasia, 6 dysplasias changed to metaplasia, 14 dysplasias changed to hyperplasia, and 35 dysplasias regressed to bronchitis or normal bronchial epithelium. There were no significant associations between histological outcome and smoking status. Mean initial telomerase activity and Ki-67 labeling index values in the dysplasias increased in proportion to the severity of the histological outcome at the second biopsy. There was also a significant difference between p53-positive and p53-negative dysplasia in terms of histological outcome at the second biopsy. Our results suggested that dysplasias with high telomerase activity, increased Ki-67 labeling index, and p53-positivity tended to remain as dysplasia and might have the potential to progress to squamous cell carcinoma. Patients with dysplastic lesions with these characteristics should be carefully followed up. PMID:15474667

  1. Pseudoachondroplastic Dysplasia

    PubMed Central

    Stevens, Jeff W

    1999-01-01

    Lamellar inclusions of the rough endoplasmic reticulum in growth plate chondrocytes, first identified (1972) in the Department of Orthopaedic Surgery, University of Iowa, has become the cytochemical hallmark for the pseudoachondroplastic dysplasia (PSACH) phenotype, linking an endoplasmic reticulum storage disorder with the osteochondrodysplasia. Since this original observation, great advances have been made, leading to the molecular understanding of this altered longitudinal bone growth anomaly. A PSACH canine model suggested that abatement of cumulative vertical growth of growth plate chondrocytes seen in PSACH results from (1) altered extracellular matrix constraints for horizontal growth and (2) uncoupling of endochondral and perichondral growth that causes metaphyseal flaring. PSACH, an autosomal dominant disease, is linked to mutation of the cartilage oligomeric matrix protein (COMP) gene. Amino acid substitutions, deletions, or additions is proposed to alter COMP structure that cause its retention in the rough endoplasmic reticulum of growth plate chondrocytes, leading to (1) compositional and structural change of the extracellular matrix, and (2) altered cellular proliferation and volume expansion. Normal growth and development occurs in COMP gene knockout mice that do not synthesis COMP, demonstrating that a mutant COMP, not absence of COMP, is required for the PSACH phenotype. The mechanism by which mutant COMP induces a PSACH phenotype remains to be elucidated. At the University of Iowa a cell culture system has been developed whereby mutant COMP transgenes are introduced into chondrocytes and the expressed product COMP is retained in the endoplasmic reticulum. This readily manipulated system makes it possible to decipher systematically the system's cellular secretory processing pathway, in order to clarify the mechanism(s) by which the mutant COMP is retained within the endoplasmic reticulum. Concurrent with this is the development of transgenic mice

  2. The "pirate sign" in fibrous dysplasia.

    PubMed

    Singnurkar, Amit; Rush, Chris

    2006-11-01

    Fibrous dysplasia commonly involves the skull in both its monostotic and polyostotic variants. We present two cases of fibrous dysplasia involving the sphenoid wing, which were strikingly similar in their bone scan appearance. Both patients demonstrated intense increased uptake of Tc-99m MDP in a pattern reminding us of a "pirate wearing an eyepatch." We propose that this characteristic appearance of fibrous dysplasia of the sphenoid wing be called the "pirate sign." A review of the literature revealed several other pathologic conditions that have been reported to involve the sphenoid bone and should be considered in the differential diagnosis of abnormal bone tracer uptake in this region. PMID:17053398

  3. Pagetoid polyostotic fibrous dysplasia.

    PubMed

    Hosalkar, Rashmi Maruti; Pathak, Jigna; Swain, Niharika; Mohanty, Neeta

    2015-01-01

    Fibrous dysplasia (FD) is a benign skeletal lesion occurring due to mutation of Gs α gene and involves one or multiple bones. We present a case of a 30-year-old female patient, with a 1-year history of swelling under her right eye that had gradually increased in size. Extraoral examination revealed a diffuse swelling extending anteroposteriorly from preauricular region to nasolabial fold, frontonasal region and superoinferiorly from zygoma to body of mandible, causing ipsilateral proptosis and contralateral deviation of nose. Intraoral examination showed obliteration of right upper and lower buccal vestibule. CT disclosed expansile lytic lesions involving multiple skull bones, jaws, sternum, rib and thoracic vertebrae. Histopathology displayed broad and interconnected trabeculae connected to the host bone exhibiting reversal lines resembling the mosaic pattern of Paget's disease. These features suggested pagetoid polyostotic FD. The patient underwent cosmetic recontouring and is under regular follow-up postoperatively. PMID:25969488

  4. Fibrous dysplasia and cherubism

    PubMed Central

    Bhattacharya, Surajit; Mishra, RK

    2015-01-01

    Fibrous dysplasia (FD) is a non-malignant fibro-osseous bony lesion in which the involved bone/bones gradually get converted into expanding cystic and fibrous tissue. The underlying defect in FD is post-natal mutation of GNAS1 gene, which leads to the proliferation and activation of undifferentiated mesenchymal cells arresting the bone development in woven phase and ultimately converting them into fibro-osseous cystic tissue. Cherubism is a hereditary form of fibrous dysplasia in which the causative factor is transmission of autosomal dominant SH3BP2 gene mutation. The disease may present in two distinct forms, a less severe and limited monostotic form, and a more aggressive and more widespread polyostotic form. Polyostotic form may be associated with various endocrine abnormalities, which require active management apart from the management of FD. Management of FD is not free from controversies. While total surgical excision of the involved area and reconstruction using newer micro-vascular technique is the only definitive treatment available from the curative point of view, but this can be only offered to monostotic and very few polyostotic lesions. In polyostotic varieties on many occasions these radical surgeries are very deforming in these slow growing lesions and so their indication is highly debated. The treatment of cranio-facial fibrous dysplasia should be highly individualized, depending on the fact that the clinical behavior of lesion is variable at various ages and in individual patients. A more conservative approach in the form of aesthetic recontouring of deformed bone, orthodontic occlusal correction, and watchful expectancy may be the more accepted form of treatment in young patients. Newer generation real-time imaging guidance during recontouring surgery adds to accuracy and safety of these procedures. Regular clinical and radiological follow up is required to watch for quiescence, regression or reactivation of the disease process. Patients must be

  5. Fibrous dysplasia and cherubism.

    PubMed

    Bhattacharya, Surajit; Mishra, R K

    2015-01-01

    Fibrous dysplasia (FD) is a non-malignant fibro-osseous bony lesion in which the involved bone/bones gradually get converted into expanding cystic and fibrous tissue. The underlying defect in FD is post-natal mutation of GNAS1 gene, which leads to the proliferation and activation of undifferentiated mesenchymal cells arresting the bone development in woven phase and ultimately converting them into fibro-osseous cystic tissue. Cherubism is a hereditary form of fibrous dysplasia in which the causative factor is transmission of autosomal dominant SH3BP2 gene mutation. The disease may present in two distinct forms, a less severe and limited monostotic form, and a more aggressive and more widespread polyostotic form. Polyostotic form may be associated with various endocrine abnormalities, which require active management apart from the management of FD. Management of FD is not free from controversies. While total surgical excision of the involved area and reconstruction using newer micro-vascular technique is the only definitive treatment available from the curative point of view, but this can be only offered to monostotic and very few polyostotic lesions. In polyostotic varieties on many occasions these radical surgeries are very deforming in these slow growing lesions and so their indication is highly debated. The treatment of cranio-facial fibrous dysplasia should be highly individualized, depending on the fact that the clinical behavior of lesion is variable at various ages and in individual patients. A more conservative approach in the form of aesthetic recontouring of deformed bone, orthodontic occlusal correction, and watchful expectancy may be the more accepted form of treatment in young patients. Newer generation real-time imaging guidance during recontouring surgery adds to accuracy and safety of these procedures. Regular clinical and radiological follow up is required to watch for quiescence, regression or reactivation of the disease process. Patients must be

  6. Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET.

    PubMed

    Shalom-Feuerstein, Ruby; Serror, Laura; Aberdam, Edith; Müller, Franz-Josef; van Bokhoven, Hans; Wiman, Klas G; Zhou, Huiqing; Aberdam, Daniel; Petit, Isabelle

    2013-02-01

    Ectodermal dysplasia is a group of congenital syndromes affecting a variety of ectodermal derivatives. Among them, ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome is caused by single point mutations in the p63 gene, which controls epidermal development and homeostasis. Phenotypic defects of the EEC syndrome include skin defects and limbal stem-cell deficiency. In this study, we designed a unique cellular model that recapitulated major embryonic defects related to EEC. Fibroblasts from healthy donors and EEC patients carrying two different point mutations in the DNA binding domain of p63 were reprogrammed into induced pluripotent stem cell (iPSC) lines. EEC-iPSC from both patients showed early ectodermal commitment into K18(+) cells but failed to further differentiate into K14(+) cells (epidermis/limbus) or K3/K12(+) cells (corneal epithelium). APR-246 (PRIMA-1(MET)), a small compound that restores functionality of mutant p53 in human tumor cells, could revert corneal epithelial lineage commitment and reinstate a normal p63-related signaling pathway. This study illustrates the relevance of iPSC for p63 related disorders and paves the way for future therapy of EEC. PMID:23355677

  7. Ultrasonography of nondevelopmental dysplasia of the hips.

    PubMed

    Grissom, L E; Harcke, H T

    1997-01-01

    We examined 45 infants with nondevelopmental dysplasia of the hip (non-DDH), including congenital deficiency of the femur (CDF) (20 infants), neuromuscular syndrome (five infants), skeletal dysplasia (15 infants), and infection (five infants), and present the sonographic findings. Dysmorphic proximal femora, coxa vara, and abnormal echogenicity of the soft tissue and cartilage are features which differentiate patients with non-DDH from those with typical DDH. PMID:8995174

  8. Fibrous Dysplasia

    MedlinePlus

    ... MAGIC Foundation Website: http://www.magicfoundation.org Rare Bone Disease Patient Network Website: http://usbjd.org/projects/RBDPN_ ... Pub. No. 15-7774 NIH Osteoporosis and Related Bone Diseases ~ National Resource Center 2 AMS Circle Bethesda, MD ...

  9. Fibromuscular Dysplasia

    MedlinePlus

    ... and B), or even serious complications such as aneurysms (bulging of the arteries) or dissections (tears of ... of FMD? Patients with FMD can develop an aneurysm or dissection in the affected arteries that can ...

  10. Multicystic renal dysplasia.

    PubMed

    Nagaraj, V P; Ratnakar, K S

    2001-07-01

    Multicystic renal dysplasia, the most common form of cystic renal disease in the newborn period, is a clinically important consequence of abnormal nephrogenesis. It usually presents as an abdominal mass. The dysplasias are usually unilateral, but it can be bilateral, segmental or focal. The clinical presentation usually depends on the extent of the dysplastic involvement and the degree of the associated urinary obstruction. Here, we present a case of histologically multicystic renal dysplasia, which is ?bilateral. The left kidney showed typical radiological, gross and histopathological features of multicystic dysplasia, but the right kidney showed only radiological features of dysplastic cystic kidney. PMID:11479648

  11. WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198*

    PubMed Central

    Santhanam, M.; Rajagopal, K.; Sugumar, L. K.; Balaji, V.

    2016-01-01

    Objectives To determine the pattern of mutations of the WISP3 gene in clinically identified progressive pseudorheumatoid dysplasia (PPD) in an Indian population. Patients and Methods A total of 15 patients with clinical features of PPD were enrolled in this study. Genomic DNA was isolated and polymerase chain reaction performed to amplify the WISP3 gene. Screening for mutations was done by conformation-sensitive gel electrophoresis, beginning with the fifth exon and subsequently proceeding to the remaining exons. Sanger sequencing was performed for both forward and reverse strands to confirm the mutations. Results In all, two of the 15 patients had compound heterozygous mutations: one a nonsense mutation c.156C>A (p.C52*) in exon 2, and the other a missense mutation c.677G>T (p.G226V) in exon 4. All others were homozygous, with three bearing a nonsense mutation c.156C>A (p.C52*) in exon 2, three a missense mutation c.233G>A (p.C78Y) in exon 2, five a missense mutation c.1010G>A (p.C337Y) in exon 5, one a nonsense mutation c.348C>A (p.Y116*) in exon 3, and one with a novel deletion mutation c.593_597delATAGA (p.Y198*) in exon 4. Conclusion We identified a novel mutation c.593_597delATAGA (p.Y198*) in the fourth exon of the WISP3 gene. We also confirmed c.1010G>A as one of the common mutations in an Indian population with progressive pseudorheumatoid dysplasia. Cite this article: V. Madhuri, M. Santhanam, K. Rajagopal, L. K. Sugumar, V. Balaji. WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198* Bone Joint Res 2016;5:301–306. DOI: 10.1302/2046-3758.57.2000520. PMID:27436824

  12. Comparison of 2.5D and 3D Quantification of Femoral Head Coverage in Normal Control Subjects and Patients with Hip Dysplasia.

    PubMed

    Cheng, Hui; Liu, Li; Yu, Weimin; Zhang, Hong; Luo, Dianzhong; Zheng, Guoyan

    2015-01-01

    Hip dysplasia is characterized by insufficient femoral head coverage (FHC). Quantification of FHC is of importance as the underlying goal of the surgery to treat hip dysplasia is to restore a normal acetabular morphology and thereby to improve FHC. Unlike a pure 2D X-ray radiograph-based measurement method or a pure 3D CT-based measurement method, previously we presented a 2.5D method to quantify FHC from a single anteriorposterior (AP) pelvic radiograph. In this study, we first quantified and compared 3D FHC between a normal control group and a patient group using a CT-based measurement method. Taking the CT-based 3D measurements of FHC as the gold standard, we further quantified the bias, precision and correlation between the 2.5D measurements and the 3D measurements on both the control group and the patient group. Based on digitally reconstructed radiographs (DRRs), we investigated the influence of the pelvic tilt on the 2.5D measurements of FHC. The intraclass correlation coefficients (ICCs) for absolute agreement was used to quantify interobserver reliability and intraobserver reproducibility of the 2.5D measurement technique. The Pearson correlation coefficient, r, was used to determine the strength of the linear association between the 2.5D and the 3D measurements. Student's t-test was used to determine whether the differences between different measurements were statistically significant. Our experimental results demonstrated that both the interobserver reliability and the intraobserver reproducibility of the 2.5D measurement technique were very good (ICCs > 0.8). Regression analysis indicated that the correlation was very strong between the 2.5D and the 3D measurements (r = 0.89, p < 0.001). Student's t-test showed that there were no statistically significant differences between the 2.5D and the 3D measurements of FHC on the patient group (p > 0.05). The results of this study provided convincing evidence demonstrating the validity of the 2.5D measurements

  13. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

    PubMed

    Terhal, Paulien A; Nievelstein, Rutger Jan A J; Verver, Eva J J; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E H; Smithson, Sarah F; Marcelis, Carlo; Kerr, Bronwyn; Clayton-Smith, Jill; Kinning, Esther; Mansour, Sahar; Elmslie, Frances; Goodwin, Linda; van der Hout, Annemarie H; Veenstra-Knol, Hermine E; Herkert, Johanna C; Lund, Allan M; Hennekam, Raoul C M; Mégarbané, André; Lees, Melissa M; Wilson, Louise C; Male, Alison; Hurst, Jane; Alanay, Yasemin; Annerén, Göran; Betz, Regina C; Bongers, Ernie M H F; Cormier-Daire, Valerie; Dieux, Anne; David, Albert; Elting, Mariet W; van den Ende, Jenneke; Green, Andrew; van Hagen, Johanna M; Hertel, Niels Thomas; Holder-Espinasse, Muriel; den Hollander, Nicolette; Homfray, Tessa; Hove, Hanne D; Price, Susan; Raas-Rothschild, Annick; Rohrbach, Marianne; Schroeter, Barbara; Suri, Mohnish; Thompson, Elizabeth M; Tobias, Edward S; Toutain, Annick; Vreeburg, Maaike; Wakeling, Emma; Knoers, Nine V; Coucke, Paul; Mortier, Geert R

    2015-03-01

    Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genotypic data in a group of 93 patients with molecularly confirmed SEDC or a related disorder. The majority of the patients (80/93) had short stature, with radiological features of SEDC (n = 64), others having SEMD (n = 5), Kniest dysplasia (n = 7), spondyloperipheral dysplasia (n = 2), or Torrance-like dysplasia (n = 2). The remaining 13 patients had normal stature with mild SED, Stickler-like syndrome or multiple epiphyseal dysplasia. Over 50% of the patients had undergone orthopedic surgery, usually for scoliosis, femoral osteotomy or hip replacement. Odontoid hypoplasia was present in 56% (95% CI 38-74) and a correlation between odontoid hypoplasia and short stature was observed. Atlanto-axial instability, was observed in 5 of the 18 patients (28%, 95% CI 10-54) in whom flexion-extension films of the cervical spine were available; however, it was rarely accompanied by myelopathy. Myopia was found in 45% (95% CI 35-56), and retinal detachment had occurred in 12% (95% CI 6-21; median age 14 years; youngest age 3.5 years). Thirty-two patients complained of hearing loss (37%, 95% CI 27-48) of whom 17 required hearing aids. The ophthalmological features and possibly also hearing loss are often relatively frequent and severe in patients with splicing mutations. Based on clinical findings, age at onset and genotype-phenotype correlations in this cohort, we propose guidelines for the management and follow-up in this group of disorders. PMID:25604898

  14. The role of intraoperative MRI in resective epilepsy surgery for peri-eloquent cortex cortical dysplasias and heterotopias in pediatric patients.

    PubMed

    Sacino, Matthew F; Ho, Cheng-Ying; Murnick, Jonathan; Keating, Robert F; Gaillard, William D; Oluigbo, Chima O

    2016-03-01

    OBJECTIVE Previous studies have demonstrated that an important factor in seizure freedom following surgery for lesional epilepsy in the peri-eloquent cortex is completeness of resection. However, aggressive resection of epileptic tissue localized to this region must be balanced with the competing objective of retaining postoperative neurological functioning. The objective of this study was to investigate the role of intraoperative MRI (iMRI) as a complement to existing epilepsy protocol techniques and to compare rates of seizure freedom and neurological deficit in pediatric patients undergoing resection of perieloquent lesions. METHODS The authors retrospectively reviewed the medical records of pediatric patients who underwent resection of focal cortical dysplasia (FCD) or heterotopia localized to eloquent cortex regions at the Children's National Health System between March 2005 and August 2015. Patients were grouped into two categories depending on whether they underwent conventional resection (n = 18) or iMRI-assisted resection (n = 11). Patient records were reviewed for factors including demographics, length of hospitalization, postoperative seizure freedom, postoperative neurological deficit, and need for reoperation. Postsurgical seizure outcome was assessed at the last postoperative follow-up evaluation using the Engel Epilepsy Surgery Outcome Scale. RESULTS At the time of the last postoperative follow-up examination, 9 (82%) of the 11 patients in the iMRI resection group were seizure free (Engel Class I), compared with 7 (39%) of the 18 patients in the control resection group (p = 0.05). Ten (91%) of the 11 patients in the iMRI cohort achieved gross-total resection (GTR), compared with 8 (44%) of 18 patients in the conventional resection cohort (p = 0.02). One patient in the iMRI-assisted resection group underwent successful reoperation at a later date for residual dysplasia, compared with 7 patients in the conventional resection cohort (with 2/7 achieving

  15. Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

    PubMed

    Jamsheer, Aleksander; Olech, Ewelina M; Kozłowski, Kazimierz; Niedziela, Marek; Sowińska-Seidler, Anna; Obara-Moszyńska, Monika; Latos-Bieleńska, Anna; Karczewski, Marek; Zemojtel, Tomasz

    2016-07-01

    Desbuquois dysplasia type 2 (DBQD2) is a rare recessively inherited skeletal genetic disorder characterized by severe prenatal and postnatal growth retardation, generalized joint laxity with dislocation of large joints and facial dysmorphism. The condition was recently described to result from autosomal recessive mutations in XYLT1, encoding the enzyme xylosyltransferase-1. In this paper, we report on a Polish patient with DBQD2 who presented with severe short stature of prenatal onset, joint laxity, psychomotor retardation and multiple radiological abnormalities including short metacarpals, advanced bone age and exaggerated trochanters. Endocrinological examinations revealed that sleep-induced growth hormone (GH) release and GH peak in clonidine- and glucagon-induced provocative tests as well as insulin-like growth factor 1 (IGF-1) and IGF-binding protein-3 levels were all markedly decreased, confirming deficiency of GH secretion. Bone age, unlikely to GH deficiency, was significantly advanced. To establish the diagnosis at a molecular level, we performed whole-exome sequencing and bioinformatic analysis in the index patient, which revealed compound heterozygous XYLT1 mutations: c.595C>T(p.Gln199*) and c.1651C>T(p.Arg551Cys), both of which are novel. Sanger sequencing showed that the former mutation was inherited from the healthy mother, whereas the latter one most probably occurred de novo. Our study describes the first case of DBQD2 resulting from compound heterozygous XYLT1 mutation, expands the mutational spectrum of the disease and provides evidence that the severe growth retardation and microsomia observed in DBQD2 patients may result not only from the skeletal dysplasia itself but also from GH and IGF-1 deficiency. PMID:27030147

  16. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

    PubMed

    Mansouri, Maria; Kayserili, Hülya; Elalaoui, Siham Chafai; Nishimura, Gen; Iida, Aritoshi; Lyahyai, Jaber; Miyake, Noriko; Matsumoto, Naomichi; Sefiani, Abdelaziz; Ikegawa, Shiro

    2016-02-01

    Spondylo-meta-epiphyseal dysplasia (SMED), short limb-abnormal calcification type (SMED, SL-AC), is a very rare autosomal recessive disorder with various skeletal changes characterized by premature calcification leading to severe disproportionate short stature. Twenty-two patients have been reported until now, but only five mutations (four missense and one splice-site) in the conserved sequence encoding the tyrosine kinase domain of the DDR2 gene has been identified. We report here a novel DDR2 missense mutation, c.370C > T (p.Arg124Trp) in a Moroccan girl with SMED, SL-AC, identified by whole exome sequencing. Our study has expanded the mutational spectrum of this rare disease and it has shown that exome sequencing is a powerful and cost-effective tool for the diagnosis of clinically heterogeneous disorders such as SMED. PMID:26463668

  17. Anal Dysplasia Screening

    PubMed Central

    2007-01-01

    Executive Summary Objective This review considered the role of the anal Pap test as a screening test for anal dysplasia in patients at high risk of anal SCC. The screening process is now thought to be improved with the addition of testing for the human papillomavirus (HPV) in high-risk populations. High-resolution anoscopy (a method to view the rectal area, using an anoscope, a lighted instrument inserted into the rectum) rather than routine anoscopy-guided biopsy, is also now considered to be the diagnostic standard. Clinical Need: Target Population and Condition Anal cancer, like cervical cancer, is a member of a broader group of anogenital cancers known to be associated with sexually transmitted viral HPV infection. Human papillomavirus is extremely prevalent, particularly in young, sexually active populations. Sexual practices involving receptive anal intercourse lead to significantly elevated risk for anal dysplasia and cancer, particularly in those with immune dysfunctions. Anal cancer is rare. It occurs at a rate of about 1 to 2 per 100,000 in the general population. It is the least common of the lower gastrointestinal cancers, representing about 4% of them, in contrast to colorectal cancers, which remain the third most commonly diagnosed malignancy. Certain segments of the population, however, such as HIV-positive men and women, other chronic immune-suppressed patients (e.g., after a transplant), injection drug users, and women with genital dysplasia /cancer, have a high susceptibility to anal cancer. Those with the highest identified risk for anal cancer are HIV-positive homosexual and bisexual men, at a rate of 70 per 100,000 men. The risk for anal cancer is reported to be increasing dramatically in HIV-positive males and females, particularly since the introduction of highly active antiretroviral therapy in the mid-1990s. The introduction of effective viral therapy has been said to have transformed the AIDS epidemic in developed countries into a chronic

  18. FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.

    PubMed

    Farmakis, Shannon G; Shinawi, Marwan; Miller-Thomas, Michelle; Radmanesh, Alireza; Herman, Thomas E

    2015-03-01

    Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric dysplasia types 1 and 2, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), and platyspondylic lethal skeletal dysplasia, San Diego type. This group of disorders has very characteristic clinical and radiologic features, which distinguish them from other skeletal dysplasias. They display a spectrum of severity in the skeletal findings, ranging from relatively mild hypochondroplasia to lethal thanatophoric dysplasia. We report a patient who has the missense FGFR3 mutation, Lys650Met, previously reported in association only with SADDAN, who exhibits some findings similar to both thanatophoric dysplasia (types 1 and 2) in addition to those findings characteristic of SADDAN. PMID:25119967

  19. Clinical and radiographic medium‐term evaluation on patients with developmental dysplasia of the hip, who were submitted to open reduction, capsuloplasty and Salter osteotomy☆☆☆

    PubMed Central

    da Rocha, Válney Luiz; Marques, Guilherme Lima; da Silva, Leonardo Jorge; di Macedo Bernardes, Tiago Augusto; de Moraes, Frederico Barra

    2014-01-01

    Objective to evaluate the clinical and radiographic medium‐term results from surgical treatment of developmental dysplasia through open reduction, Salter et al.’s osteotomy and capsuloplasty. Methods 13 patients were evaluated, 13 hips treated surgically by the proposed technique between 2004 and 2011. A clinical and radiographic evaluation was conducted by Dutoit et al. and Severin et al. criteria, respectively. Results the acetabular preoperative index for the 13 surgically treated hips ranged from 27° to 50° (average of 36), and after surgical correction to 18.5° (10–28°), so that the evaluations of preoperative and postoperative acetabular indexes showed up significant statistic reduction (p < 0.05). Regarding the postoperative clinical evaluation, it was found: nine excellent hips (69.2%), three good ones (23.1%), no fair hips (0%) and a poor one (7.7%). In radiographic evaluation, it was found: six excellent hips (46.1%), three good ones (23.1%), no fair hips (0%) and four poor ones (30.8%). Therefore, favorable results were obtained (92.3%), with grouped hips with excellent and good ratings as satisfactory and with fair and bad ratings as unsatisfactory. It is also important to notice that there was no significance among occurrence of complications, the patient's age, the time of surgery and the preoperative acetabular index (p > 0.05). As complications occurred, it was found that three subluxations and a subluxation associated with avascular necrosis of the femoral head. Conclusion open reduction, Salter et al.’s osteotomy and capsuloplasty are seen to be a viable option for the treatment of developmental dysplasia of the hip, according to clinical and radiological medium‐term evaluations. PMID:26229772

  20. Maxillofacial fibrous dysplasia: a diagnostic challenge.

    PubMed

    Markov, Peter; Syed, Ali Zakir; Markova, Christiana; Mendes, Rui Amaral

    2016-01-01

    A 30-year-old woman presented for orthodontic treatment, with a chief symptom of a 'shifting bite' and concurrent facial asymmetry with aesthetic concerns. The patient had previously received treatment from several general dentists and several specialists, without accurate diagnosis. Radiological investigation coupled with biopsy confirmed a diagnosis of fibrous dysplasia. Proper diagnosis led to changes in the treatment plan and gave the patient realistic expectations about the options she had for the outcome of treatment. Prompt diagnosis by dental practitioners is critical to patient satisfaction and successful outcome; therefore, it is important to familiarise ourselves with the signs, symptoms and proper course of management of fibrous dysplasia. PMID:27358102

  1. Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance.

    PubMed

    Kassner, E G; Haller, J O; Reddy, V H; Mitarotundo, A; Katz, I

    1976-12-01

    Frontometaphyseal dysplasia is a syndrome that encompasses cranial hyperostosis, abnormal tubulation of cylindrical bones, and other skeletal and extraskeletal abnormalities. The most striking features are overgrowth of the supraorbital ridges which results in a Mephistophelian facial appearance and a radiographic configuration of the skull that has been likened to a soldier's helmet. Most patients have severe hearing loss, defective dentition, poorly developed musculature, and joint contractures. Dominant inheritance has been suggested in previous reports, but an appropriate pedigree has been documented in only one family. This paper describes three additional patients in two unrelated families: (1) an 8-year-old boy whose mother has mild metaphyseal dysplasia and several minor skeletal abnormalities that have occurred in patients with the syndrome; and (2) two maternal half-brothers. These cases provide additional evidence that frontometaphyseal dysplasia is an autosomal dominant trait with variable penetrance. PMID:998829

  2. Hip arthroscopy in the setting of hip dysplasia

    PubMed Central

    Yeung, M.; Kowalczuk, M.; Simunovic, N.

    2016-01-01

    Objective Hip arthroscopy in the setting of hip dysplasia is controversial in the orthopaedic community, as the outcome literature has been variable and inconclusive. We hypothesise that outcomes of hip arthroscopy may be diminished in the setting of hip dysplasia, but outcomes may be acceptable in milder or borderline cases of hip dysplasia. Methods A systematic search was performed in duplicate for studies investigating the outcome of hip arthroscopy in the setting of hip dysplasia up to July 2015. Study parameters including sample size, definition of dysplasia, outcomes measures, and re-operation rates were obtained. Furthermore, the levels of evidence of studies were collected and quality assessment was performed. Results The systematic review identified 18 studies investigating hip arthroscopy in the setting of hip dysplasia, with 889 included patients. Criteria used by the studies to diagnose hip dysplasia and borderline hip dysplasia included centre edge angle in 72% of studies but the range of angles were quite variable. Although 89% of studies reported improved post-operative outcome scores in the setting of hip dysplasia, revision rates were considerable (14.1%), with 9.6% requiring conversion to total hip arthroplasty. Conclusion The available orthopaedic literature suggests that although improved outcomes are seen in hip arthroscopy in the setting of hip dysplasia, there is a high rate of re-operation and conversion to total hip arthroplasty. Furthermore, the criteria used to define hip dysplasia vary considerably among published studies. Cite this article: M. Yeung, M. Kowalczuk, N. Simunovic, O. R. Ayeni. Hip arthroscopy in the setting of hip dysplasia: A systematic review. Bone Joint Res 2016;5:225–231. DOI: 10.1302/2046-3758.56.2000533. PMID:27313136

  3. Ectodermal dysplasia associated with sickle cell disease.

    PubMed

    Volpato, Luiz Evaristo Ricci; Volpato, Maria Carmen Palma Faria; de Carvalhosa, Artur Aburad; Palma, Vinicius Canavarros; Borges, Alvaro Henrique

    2014-01-01

    Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses. PMID:25343049

  4. Treatment of hip dysplasia.

    PubMed

    Anderson, A

    2011-04-01

    Hip dysplasia is a common orthopaedic developmental disorder of dogs. This paper reviews the treatment options available for management of the condition in the skeletally immature and adult dog. PMID:21906059

  5. The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain

    PubMed Central

    2012-01-01

    Background Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological complications. Because the data and expertise associated with this field is both sparse and disparate, significant benefits will potentially accrue from the availability of an ontology that provides a shared conceptualisation of the domain knowledge and enables data integration, cross-referencing and advanced reasoning across the relevant but distributed data sources. Results We introduce the design considerations and implementation details of the Bone Dysplasia Ontology. We also describe the different components of the ontology, including a comprehensive and formal representation of the skeletal dysplasia domain as well as the related genotypes and phenotypes. We then briefly describe SKELETOME, a community-driven knowledge curation platform that is underpinned by the Bone Dysplasia Ontology. SKELETOME enables domain experts to use, refine and extend and apply the ontology without any prior ontology engineering experience--to advance the body of knowledge in the skeletal dysplasia field. Conclusions The Bone Dysplasia Ontology represents the most comprehensive structured knowledge source for the skeletal dysplasias domain. It provides the means for integrating and annotating clinical and research data, not only at the generic domain knowledge level, but also at the level of individual patient case studies. It enables links between individual cases and publicly available genotype and phenotype resources based on a community-driven curation process that ensures a shared conceptualisation of the domain knowledge and its continuous incremental evolution. PMID:22449239

  6. Craniofacial fibrous dysplasia

    PubMed Central

    Jhamb, Aakarsh; Mohanty, Sujata; Jhamb, Parul A

    2012-01-01

    Fibrous dysplasia can present clinically in varied forms which may appear as collision of different pathologic processes. We report a rare case of craniofacial fibrous dysplasia with coexisting epithelial lined cyst and superimposed osteomyelitis with sequestrum formation. Its clinical features and management with possible hypotheses are described along with the post operative course. Pertinent literature has been reviewed with emphasis on pathogenesis of this unique occurrence. PMID:23248490

  7. Cloning of the anhidrotic ectodermal dysplasia gene: Identification of cDNAs associated with CpG islands mapped near translocation breakpoint in two female patients

    SciTech Connect

    Srivastava, A.K.; Schlessinger, D.; Kere, J.

    1994-09-01

    The gene for the X chromosomal developmental disorder anhidrotic ectodermal dysplasia (EDA) has been mapped to Xq12-q13 by linkage analysis and is expressed in a few females with chromosomal translocations involving band Xq12-q13. A yeast artificial chromosome (YAC) contig (2.0 Mb) spanning two translocation breakpoints has been assembled by sequence-tagged site (STS)-based chromosomal walking. The two translocation breakpoints (X:autosome translocations from the affected female patients) have been mapped less than 60 kb apart within a YAC contig. Unique probes and intragenic STSs (mapped between the two translocations) have been developed and a somatic cell hybrid carrying the translocated X chromosome from the AK patient has been analyzed by isolating unique probes that span the breakpoint. Several STSs made from intragenic sequences have been found to be conserved in mouse, hamster and monkey, but we have detected no mRNAs in a number of tissues tested. However, a probe and STS developed from the DNA spanning the AK breakpoint is conserved in mouse, hamster and monkey, and we have detected expressed sequences in skin cells and cDNA libraries. In addition, unique sequences have been obtained from two CpG islands in the region that maps proximal to the breakpoints. cDNAs containing these sequences are being studied as candidates for the gene affected in the etiology of EDA.

  8. Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report.

    PubMed

    Kraoua, Lilia; Chaabouni, Myriam; Ewers, Elisabeth; Chelly, Imen; Ouertani, Ines; Ben Jemaa, Lamia; Maazoul, Faouzi; Liehr, Thomas; Chaabouni, Habiba

    2011-01-01

    Derivatives of chromosome 15, often referred to as inv dup(15), represent the most common supernumerary marker chromosome (SMC). SMC(15)s can be classified into two major groups according to their length: small SMC(15) and large ones. Depending on the amount of euchromatin, the carriers may either present with a normal phenotype or with a recognizable syndrome. Here we describe a patient with severe mental retardation, epilepsy, dysmorphic features and pigmentary dysplasia. His karyotype was 47,XY,+mar[41]/46,XY[9]. Chromosomal fluorescence in situ hybridization (FISH) showed the SMC to be originating from chromosome 15, dicentric and containing four copies of the Prader-Willi/Angelman Syndrome Critical Region (PWACR), including the OCA2 gene. Molecular studies indicated that it is maternally derived. This report supports the previous observations assuming that severity of phenotype in patients with SMC(15) depends on the dosage of the PWACR and that skin pigmentation is correlated to OCA2 gene copy number. PMID:21621018

  9. [A Case of Fibromuscular Dysplasia in a Patient with Various Main Trunk Dissections in the Head and Neck over a Short Period].

    PubMed

    Ando, Kazuhiro; Sasaki, Osamu; Watanabe, Masatoshi; Nashimoto, Takeo; Kikuchi, Bumpei

    2016-07-01

    We report a case of subarachnoid hemorrhage(SAH)from an intracranial vertebral artery(VA)dissection in a patient with fibromuscular dysplasia(FMD)who presented with headache. A 54-year-old woman complained of spontaneous occipital headache. The dilatation of the left VA was detected on magnetic resonance angiography(MRA). She was diagnosed with left VA dissection(headache onset type). After sudden onset of headache on the second day of hospitalization, her consciousness level, as defined by the Japan Coma Scale, was 300. Computed tomography(CT)revealed SAH. Cerebral angiography showed the dilatation of the left intracranial VA and contrast material pooling, which was suspected to be a sign of dissection. We performed VA intravascular ligation by coil embolization. The postoperative course was good but postoperative MRA revealed arterial wall irregularities in both the extra cranial internal carotid artery and the right VA. Cerebral angiography showed the presence of the string-of-beads sign at these arteries. She was diagnosed with FMD. SAH might develop during the follow-up period in patients with VA dissection, even those in whom the initial symptom is headache. In addition, cases of FMD might also be complicated by various lesions of the main trunk of the cerebral artery. PMID:27384119

  10. Ectodermal dysplasia in identical twins

    PubMed Central

    Puttaraju, Gurkar Haraswarupa; Visveswariah, Paranjyothi Magadi

    2013-01-01

    Hereditary hypohidrotic ectodermal dysplasia (HED) is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands. Two cases of hereditary HED involving identical male twins, is being documented for the rarity of its occurrence with special attention given to genetics, pathophysiology, clinical, intraoral manifestations and to the methods to improve the masticatory function, the facial esthetics and psychology of patients affected by this disease. PMID:23956595

  11. Genetics Home Reference: Greenberg dysplasia

    MedlinePlus

    ... develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray ... Greenberg dysplasia is also called hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), which reflects the condition's ...

  12. Developmental dysplasia of the hip

    MedlinePlus

    ... Developmental hip dysplasia; DDH; Congenital dysplasia of the hip; Congenital dislocation of the hip; CDH; Pavlik harness ... dislocation Shorter leg on the side with the hip dislocation Uneven skin folds of thigh or buttocks After ...

  13. [Renal dysplasia: clinico-pathologic review].

    PubMed

    Cunha, A S; de Sousa, J F; Garcia, C

    1992-05-01

    Histology records from 63 nephrectomies were reviewed; 22 patients had unilateral totally dysplastic kidneys and 5 had polar or segmental dysplasia. A clinicopathological study of these cases was undertaken. In the first group, there was a slight male preponderance and 75% of the patients presented were under two years of age. Urinary tract infection was the most common complaint. 4 patients were diagnosed in utero by ultrasound and 5 infants presented an abdominal mass. Hypertension was documented in a newborn baby. Ipsilateral lower urinary tract anomalies were found in 12 patients and those of the contralateral kidney in 2 children. There were 3 cases of extrarenal anomalies. Histological examination revealed 13 cases of multicystic dysplasia and 9 of solid dysplasia. Metaplastic cartilage was found in 1 case. In the group of segmental dysplasia, age ranging from 27 weeks' gestation to 8 years, at the time of the diagnosis. They all had duplex kidneys and 4 had ureterocele. Histological study in these cases was similar to the one found in the previous series, although superimposed inflammatory changes were more pronounced. Some of the theories regarding the pathogenesis of this disorder are reviewed and the importance of its diagnosis is emphasised. PMID:1502940

  14. The Association of High Risk Human Papillomaviruses in Patients With Cervical Cancer: An Evidence Based Study on Patients With Squamous Cell Dysplasia or Carcinoma for Evaluation of 23 Human Papilloma Virus Genotypes

    PubMed Central

    Piroozmand, Ahmad; Mostafavi Zadeh, Seyed Mostafa; Madani, Azita; Soleimani, Reza; Nedaeinia, Reza; Niakan, Mohammad; Avan, Amir; Manian, Mostafa; Moradi, Mohammad; Eftekhar, Zahra

    2016-01-01

    Background Cervical cancer is one of the leading causes of cancer-related death in females. Human papilloma virus (HPV) is the major risk factor of cervical cancer. Objectives The aim of the current study was to explore the frequency and role of 23 different HPVs in patients with cervical cancer. Materials and Methods Overall, 117 formalin-fix and paraffin-embedded (FFPE) tissues from cervical cancer patients with squamous cell carcinoma (SCC) or dysplasia were collected from Mirza-Kochakkhan-Jangali hospital, Tehran, Iran during year 2013, to investigate the presence of HPV- HPV- 67, 68, 6, 11, 13, 16, 17, 30, 69, 39, 40, 42, 64, 66 and 51 to 59 genotypes. Results The Pap smear report illustrated the presence of malignancy in 71 cases, while 11 cases had no evidence of malignancy. Among the patients, 26 cases had sexually transmitted disease with relative frequency of 0.58. Infection with papilloma virus was observed in 83.6% of SCC patients and 45% of the dysplasia group. The most prevalent HPV genotypes were 18 with 31.62% and 16 with 27.35% of cases. Moreover the relative frequencies of HPV-33, -6, -58, -52, -35 and -51, genotypes were 15.38, 7.69, 5.98, 5.12 and 3.41%, respectively. Among the different genotypes of HPV, 31 had the lowest and 16 had the highest relative frequency. Conclusions Our findings demonstrate that HPV-16 and -18 have a higher prevalence in our population than 31 and 51. Further investigations are required to evaluate the role of these genotypes in a larger multicenter setting for establishing their values for early detection of patients, which is useful for screening and vaccination programs of cancerous and precancerous lesions of cervical cancer. PMID:27279992

  15. Glenoid Dysplasia: Pathophysiology, Diagnosis, and Management.

    PubMed

    Eichinger, Josef K; Galvin, Joseph W; Grassbaugh, Jason A; Parada, Stephen A; Li, Xinning

    2016-06-01

    ➤Subtle forms of glenoid dysplasia may be more common than previously thought and likely predispose some patients to symptomatic posterior shoulder instability. Severe glenoid dysplasia is a rare condition with characteristic radiographic findings involving the posteroinferior aspect of the glenoid that often remains asymptomatic.➤Instability symptoms related to glenoid dysplasia may develop over time with increased activities or trauma. Physical therapy focusing on rotator cuff strengthening and proprioceptive control should be the initial management.➤Magnetic resonance imaging and computed tomographic arthrograms are useful for detecting subtle glenoid dysplasia by revealing the presence of an abnormally thickened or hypertrophic posterior part of the labrum, increased capsular volume, glenoid retroversion, and posteroinferior glenoid deficiency.➤Open and arthroscopic labral repair and capsulorrhaphy procedures have been described for symptomatic posterior shoulder instability. Glenoid retroversion of >10° may be a risk factor for failure following soft-tissue-only procedures for symptomatic glenoid dysplasia.➤Osseous procedures are categorized as either glenoid reorientation (osteotomy) or glenoid augmentation (bone graft), and no predictable results have been demonstrated for any surgical strategy. Glenoid osteotomies have been described for increased retroversion, with successful results, although others have noted substantial complications and poor outcomes.➤In severe glenoid dysplasia, the combination of bone deficiency and retroversion makes glenoid osteotomy extremely challenging. Bone grafts placed in a lateralized position to create a blocking effect may increase the risk of the development of arthritis, while newer techniques that place the graft in a congruent position may decrease this risk. PMID:27252441

  16. Effects of rotational acetabular osteotomy on the mechanical stress within the hip joint in patients with developmental dysplasia of the hip: a subject-specific finite element analysis.

    PubMed

    Ike, H; Inaba, Y; Kobayashi, N; Yukizawa, Y; Hirata, Y; Tomioka, M; Saito, T

    2015-04-01

    In this study we used subject-specific finite element analysis to investigate the mechanical effects of rotational acetabular osteotomy (RAO) on the hip joint and analysed the correlation between various radiological measurements and mechanical stress in the hip joint. We evaluated 13 hips in 12 patients (two men and ten women, mean age at surgery 32.0 years; 19 to 46) with developmental dysplasia of the hip (DDH) who were treated by RAO. Subject-specific finite element models were constructed from CT data. The centre-edge (CE) angle, acetabular head index (AHI), acetabular angle and acetabular roof angle (ARA) were measured on anteroposterior pelvic radiographs taken before and after RAO. The relationship between equivalent stress in the hip joint and radiological measurements was analysed. The equivalent stress in the acetabulum decreased from 4.1 MPa (2.7 to 6.5) pre-operatively to 2.8 MPa (1.8 to 3.6) post-operatively (p < 0.01). There was a moderate correlation between equivalent stress in the acetabulum and the radiological measurements: CE angle (R = -0.645, p < 0.01); AHI (R = -0.603, p < 0.01); acetabular angle (R = 0.484, p = 0.02); and ARA (R = 0.572, p < 0.01). The equivalent stress in the acetabulum of patients with DDH decreased after RAO. Correction of the CE angle, AHI and ARA was considered to be important in reducing the mechanical stress in the hip joint. PMID:25820887

  17. Recurrent Monostotic Fibrous Dysplasia in the Mandible

    PubMed Central

    de Oliveira, Reinaldo José; Takehana, Denise; Deana, Naira Figueiredo

    2016-01-01

    Fibrous dysplasia (FD) is a condition in which normal bone marrow is replaced by an abnormal proliferation of new fibrous connective tissue. Female patient, white, 20 years old, attended the dental clinic reporting a slow increase in volume in the right mandible region over the last 5 years. She was examined by imaging: the panoramic X-ray revealed a lesion with the appearance of ground glass while the cone-beam computed tomography showed an extensive lesion in the region of the right hemimandible. The histopathological examination was compatible with fibrous dysplasia. Bone gammagraphy was indicated, plus an endocrinological study to eliminate polyostotic forms, which produced a negative result. Monostotic fibrous dysplasia in the right hemimandible was diagnosed. Conservative surgery was carried out and after 1 year recurrence of the tumour was observed. We may conclude that conservative surgery might not be the best choice for treatment for monostotic fibrous dysplasia in the mandible and that other options must be considered, such as radical surgery or the use of bisphosphonates. In our study, we may also conclude that it is very important to explain to the patient the possibility of recurrence of the lesion and the need for monitoring with periodic imaging studies. PMID:27340572

  18. Recurrent Monostotic Fibrous Dysplasia in the Mandible.

    PubMed

    Alves, Nilton; de Oliveira, Reinaldo José; Takehana, Denise; Deana, Naira Figueiredo

    2016-01-01

    Fibrous dysplasia (FD) is a condition in which normal bone marrow is replaced by an abnormal proliferation of new fibrous connective tissue. Female patient, white, 20 years old, attended the dental clinic reporting a slow increase in volume in the right mandible region over the last 5 years. She was examined by imaging: the panoramic X-ray revealed a lesion with the appearance of ground glass while the cone-beam computed tomography showed an extensive lesion in the region of the right hemimandible. The histopathological examination was compatible with fibrous dysplasia. Bone gammagraphy was indicated, plus an endocrinological study to eliminate polyostotic forms, which produced a negative result. Monostotic fibrous dysplasia in the right hemimandible was diagnosed. Conservative surgery was carried out and after 1 year recurrence of the tumour was observed. We may conclude that conservative surgery might not be the best choice for treatment for monostotic fibrous dysplasia in the mandible and that other options must be considered, such as radical surgery or the use of bisphosphonates. In our study, we may also conclude that it is very important to explain to the patient the possibility of recurrence of the lesion and the need for monitoring with periodic imaging studies. PMID:27340572

  19. Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.

    PubMed

    Montané, Lucia Sentchordi; Marín, Oliver R; Rivera-Pedroza, Carlos I; Vallespín, Elena; Del Pozo, Ángela; Heath, Karen E

    2016-06-01

    Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia associated with pain and stiffness of multiple joints, enlargement of the interphalangeal joints, normal inflammatory parameters, and absence of extra-skeletal manifestations. Homozygous or compound heterozygous WISP3 mutations cause PPD. We report two siblings from a non-consanguineous Ecuadorian family with a late-onset spondyloepiphyseal dysplasia. Mutation screening was undertaken in the two affected siblings using a customized skeletal dysplasia next generation sequencing (NGS) panel and confirmed by Sanger sequencing. Two compound heterozygous mutations were identified in WISP3 exon 2, c.[190G>A];[197G>A] (p.[(Gly64Arg)];[(Ser66Asn)]) in the two siblings, both of which had been inherited. The p. (Gly64Arg) mutation has not been previously described whilst the p. (Ser66Asn) mutation has been reported in two PPD families. The two siblings presented with atypical PPD, as they presented during late childhood, yet the severity was different between them. The progression was particularly aggressive in the male sibling who suffered severe scoliosis by the age of 13 years. This case reaffirms the clinical heterogeneity of this disorder and the clinical utility of NGS to genetically diagnose skeletal dysplasias, enabling adequate management, monitorization, and genetic counseling. © 2016 Wiley Periodicals, Inc. PMID:26991965

  20. Co-existence of acute myeloid leukemia with multilineage dysplasia and Epstein-Barr virus-associated T-cell lymphoproliferative disorder in a patient with rheumatoid arthritis: a case report

    PubMed Central

    Tokuhira, Michihide; Hanzawa, Kyoko; Watanabe, Reiko; Sekiguchi, Yasunobu; Nemoto, Tomoe; Toyozumi, Yasuo; Tamaru, Jun-ichi; Itoyama, Shinji; Suzuki, Katsuya; Kameda, Hideto; Mori, Shigehisa; Kizaki, Masahiro

    2009-01-01

    Rheumatoid arthritis (RA) is an autoimmune disease mediated by inflammatory processes mainly at the joints. Recently, awareness of Epstein-Barr virus (EBV)-associated T-cell lymphoproliferative disorder (T-LPD) has been heightened for its association with methotraxate usage in RA patients. In the contrary, acute myeloid leukemia with multilineage dysplasia (AML-MLD) has never been documented to be present concomitantly with the above two conditions. In this report we present a case of an autopsy-proven co-existence of AML-MLD and EBV-associated T-LPD in a patient with RA. PMID:19566938

  1. Optic disc anomalies and frontonasal dysplasia

    PubMed Central

    Hodgkins, P; Lees, M; Lawson, J; Reardon, W; Leitch, J; Thorogood, P; Winter, R; Taylor, D

    1998-01-01

    AIMS—To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele.
METHODS—Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and palate; hypertelorism; absent corpus callosum; basal (sphenoethmoidal) encephalocele; and pituitary deficiency (five out of six cases). Ophthalmic examination was performed with fundal photography where possible.
RESULTS—Two patients had unilateral and one a bilateral peripapillary staphyloma. Two patients had bilateral optic disc hypoplasia and one appeared to have a peripapillary staphyloma in one eye and a morning glory disc in the other.
CONCLUSION—Optic disc abnormalities were found in all patients with this constellation of clinical findings. This association appears to represent a distinct subgroup within the spectrum of frontonasal dysplasia. The presence of midline facial anomalies and any dysplastic disc should alert the physician as to the presence of an encephalocele.

 Keywords: frontonasal dysplasia; optic disc; encephalocele PMID:9602627

  2. Syntelencephaly associated with connected transhemispheric cleft of focal cortical dysplasia.

    PubMed

    Fujimoto, S; Togari, H; Banno, T; Wada, Y

    1999-05-01

    The authors report a female with syntelencephaly associated with a connected transhemispheric cleft of focal cortical dysplasia. Syntelencephaly is a rare anomaly characterized by fusion of the hemispheres in the posterior frontal and parietal regions and is considered a new variant of holoprosencephaly. Cranial magnetic resonance imaging of the patient revealed syntelencephaly associated with bilateral fused clefts of focal cortical dysplasia without the pial-ependymal seam, which was regarded as an incomplete type of schizencephaly. The underlying mechanism is discussed. PMID:10371387

  3. Ipsilateral Sphenoid Wing Dysplasia, Orbital Plexiform Neurofibroma and Fronto-Parietal Dermal Cylindroma in a Patient with Segmental Neurofibromatosis.

    PubMed

    Friedrich, Reinhard E; Hagel, Christian; Mautner, Victor-Felix

    2015-12-01

    Neurofibromatosis type 1 (NF1) is an autosomal-dominant inherited disease affecting various parts of the body. Penetrance is almost complete but the phenotype varies considerably. Recently, mosaicism in NF1 has come into the focus of scientific interest. This report refers to a patient with orbitotemporal-confined neurofibromatosis who developed a rare skin tumor in the region. PMID:26637901

  4. Thanatophoric dysplasia: A review.

    PubMed

    Wainwright, H

    2016-01-01

    Thanatophoric dysplasia is a well-known cause of potentially lethal short-limbed dwarfism in the newborn. The diagnosis is usually made by the recognition of characteristic radiological changes and confirmed at autopsy by demonstration of specific morphological and histological changes in the brain. This review is based upon the author's personal experience and archived data of 19 cases and concerns the clinical and radiographic manifestations, autopsy findings, molecular pathogenesis and the approach to antenatal diagnosis. PMID:27245526

  5. "Baby rattle" pelvis dysplasia.

    PubMed

    Cormier-Daire, V; Savarirayan, R; Lachman, R S; Neidich, J A; Grace, K; Rimoin, D L; Wilcox, W R

    2001-04-15

    We report an apparently previously undescribed lethal skeletal dysplasia, clinically resembling achondrogenesis, but with distinct radiologic and chondro-osseous morphologic features. These comprise bifid distal ends of the long bones of the limbs, absent vertebral body ossification, a unique "baby rattle" pelvic configuration with tall and broad ilia, absent endochondral ossification, regions of mesenchymal cells within the resting cartilage, and abnormal mesenchymal ossification. PMID:11337746

  6. Severity grading in radial dysplasia.

    PubMed

    Vilkki, S K

    2014-11-01

    A functional scoring method to grade the usefulness and quality of the upper limbs in congenital radial dysplasia is presented. It is based on the author's examinations of 44 arms with congenital deficiency of the radius. The hand (H), wrist (W) and proximal parts (P) of the extremity are each scored from 0 to 10 points for severity. The scoring is expressed similarly to the TNM (tumour, nodes, metastasis) tumour classification, for example as H5W4P2. The maximum severity index is 30 points. A severity grade of mild is between 1 and 8 points, moderate between 9 and 16 points and severe 17 points and over. In the author's series, the grades were mild in eight, moderate in 21 and severe in 15 cases. The functional severity grading should allow better comparison of radially deficient limbs and the results of treatment between groups of patients. PMID:24401744

  7. Treatment of Dysplasia in Barrett Esophagus

    PubMed Central

    Aranda-Hernandez, Javier; Cirocco, Maria

    2014-01-01

    Barrett esophagus is recognized as a risk factor for the development of dysplasia and adenocarcinoma of the esophagus. Cancer is usually diagnosed at an advanced stage with a 5-year survival rate of 15%. Most of these patients present de novo and are not part of a surveillance program. Endoscopic screening with improvement in recognition of early lesions may change this pattern. In the past, patients diagnosed with dysplasia and mucosal cancer were best managed by esophagectomy. Endoscopic techniques such as endoscopic mucosal resection and radiofrequency ablation have resulted in high curative rates and a shift away from esophagectomy. This pathway is supported by the literature review of esophagectomies performed for mucosal disease, as well as pathologists' interpretation of endoscopic mucosal specimens, which document the low risk of lymph node metastasis. The role of endoscopic therapy for superficial submucosal disease continues to be a challenge. PMID:24570884

  8. Monostotic fibrous dysplasia with Raynaud's phenomenon

    PubMed Central

    Kumar, K. V. S. Hari; Aravinda, K.; Narayanan, K.

    2015-01-01

    Fibrous dysplasia (FD) is a benign bone disorder characterized by alteration in bone morphology. Monostotic FD is the commonest variant and affects the craniofacial bones. Raynaud's phenomenon is recurrent vasospasm of the fingers and toes due to cold exposure. The disease is usually idiopathic or secondary to connective tissue disorders. Raynaud's phenomenon is not described previously with FD. We recently encountered two interesting patients of craniofacial monostotic FD with Raynaud's phenomenon and report the same in this report. PMID:26283854

  9. Grading of cervical dysplasias by frozen section.

    PubMed

    Fletcher, S; Smart, G E; Livingstone, J R

    1985-09-14

    Grading of cervical dysplasias at colposcopy by means of rapid frozen section avoids the delay inevitable with paraffin sections. The immediacy of the diagnosis benefits the patient, who can be treated at her first visit. A comparison of grading by frozen sections with paraffin sections has confirmed the safety of the frozen method. Additional advantages are opportunities for optimum orientation and "rescue" of specimens, improved colposcopic training, and the facilitation of special investigations on fresh cervical tissue. PMID:2863606

  10. Spatial changes of the peri-acetabular pelvic in developmental dysplasia of the hip---a combined 3-dimentional computed tomography (3D-CT) study in patients and experimental study in rats

    PubMed Central

    Shang, Cong; Liu, Tianjing; Xie, Hengcui; Li, Jianjun; Gao, Sizhe; Zhao, Qun; Zhang, Lijun; Wang, Enbo

    2014-01-01

    Few previous studies noticed the three bony structures that formed the acetabulum in developmental dysplasia of the hip (DDH). This study aimed at investigating the spatial changes of the peri-acetabular pelvis in developmental dysplasia of the hip through radiological evaluation of the patients and experimental observations in rat models. 115 unilateral DDH patients were studied through 3D-CT. In reconstruction workstation, the iliopubic inner plate angle, ilioischial inner plate angle and ischialpubic inner plate angle were measured and compared. 58 neonatal Wistar rats were divided into two groups and the rats in experiment group were swaddled to establish DDH models. The hips were sectioned, stained. The same three angles were measured and compared. The ilioischial inner plate angle of the affected hip decreased while the ischialpubic inner plate angle increased compared to those of the contralateral side. The iliopubic inner plate angle showed no difference between the affected and unaffected hips. In animal models we observed the same pathological pattern. The three angles measured on the sections showed similar tendency as those in the patients with DDH. The ischium rotates up and forwardly around the posterior and vertical limbs of the triradiate cartilage complex in DDH, just as a lifted piece of Pizza. PMID:25663996

  11. Initial respiratory management in preterm infants and bronchopulmonary dysplasia

    PubMed Central

    López, Ester Sanz; Rodríguez, Elena Maderuelo; Navarro, Cristina Ramos; Sánchez-Luna, Manuel

    2011-01-01

    BACKGROUND: Ventilator injury has been implicated in the pathogenesis of bronchopulmonary dysplasia. Avoiding invasive ventilation could reduce lung injury, and early respiratory management may affect pulmonary outcomes. OBJECTIVE: To analyze the effect of initial respiratory support on survival without bronchopulmonary dysplasia at a gestational age of 36 weeks. DESIGN/METHODS: A prospective 3-year observational study. Preterm infants of <32 weeks gestational age were classified into 4 groups according to the support needed during the first 2 hours of life: room air, nasal continuous positive airway pressure, intubation/surfactant/extubation and prolonged mechanical ventilation (defined as needing mechanical ventilation for more than 2 hours). RESULTS: Of the 329 eligible patients, a total of 49% did not need intubation, and 68.4% did not require prolonged mechanical ventilation. At a gestational age of 26 weeks, there was a significant correlation between survival without bronchopulmonary dysplasia and initial respiratory support. Preterm infants requiring mechanical ventilation showed a higher risk of death and bronchopulmonary dysplasia. After controlling for gestational age, antenatal corticosteroid use, maternal preeclampsia and chorioamnionitis, the survival rate without bronchopulmonary dysplasia remained significantly lower in the mechanically ventilated group. CONCLUSIONS: In our population, the need for more than 2 hours of mechanical ventilation predicted the development of bronchopulmonary dysplasia in preterm infants with a gestational age >26 weeks (sensitivity = 89.5% and specificity = 67%). The need for prolonged mechanical ventilation could be an early marker for the development of bronchopulmonary dysplasia. This finding could help identify a target population with a high risk of chronic lung disease. Future research is needed to determine other strategies to prevent bronchopulmonary dysplasia in this high-risk group of patients. PMID

  12. Treatment of High-Grade Anal Dysplasia in High Risk Patients: Outcome at an Urban Community Health Center

    PubMed Central

    Assoumou, Sabrina Annick; Panther, Lori Ann; Feng, Yang; Gelman, Rebecca Sue; Fugelso, Dana Kailani; Mayer, Kenneth Hugh

    2013-01-01

    SUMMARY Human immunodeficiency (HIV)-infected patients and men who have sex with men (MSM) have a higher rate of high-grade anal intraepithelial neoplasia (HGAIN), a likely precursor to anal cancer. This retrospective study describes the outcome of treating MSM with incident biopsy-proven HGAIN in an urban community health setting with access to outpatient ablation or operative treatment. The main outcome was freedom from HGAIN at follow-up. 153 met inclusion criteria; 86 (56%) were HIV-infected. Eighty (52%) received outpatient ablation, 49(61%) had a follow-up within 9 months. Among those, 26 (53%) were free of high-grade disease, 19 (39%) had high-grade disease; and 4 (8%) had unknown grading. In a logistic regression model, a lower extent of anal disease (1 quadrant vs. 2,3, or 4 quadrants) was significantly associated with a lower probability of high-grade disease (p-value 0.04.) HGAIN could be managed in a community health setting; however, systems are needed to ensure follow-up care. PMID:23535356

  13. Cost-effectiveness of surveillance strategies after treatment for high-grade anal dysplasia in high risk patients

    PubMed Central

    Mayer, Kenneth H.; Panther, Lori; Linas, Benjamin P.; Kim, Jane J.

    2013-01-01

    Background Anal cancer is one of the most common cancers affecting human immunodeficiency virus (HIV)-infected male patients. Currently, there is no consensus on post-treatment surveillance of HIV-infected men who have sex with men (MSM) who have been treated for high-grade intraepithelial neoplasia (HGAIN), the likely precursor to anal cancer. Objective To assess the cost-effectiveness of a range of strategies for anal cancer surveillance in HIV-infected MSM previously treated for HGAIN. Methods We developed a Markov model to project quality-adjusted life expectancy (QALE), lifetime costs, and the incremental cost-effectiveness ratios (ICER) of five strategies using high resolution anoscopy (HRA) and/or anal cytology testing after treatment. Results Performing HRA alone at 6- and 12-month visits was associated with a cost-effectiveness ratio of $4,446 per QALY gained. In comparison, combined HRA and anal cytology at both visits provided the greater health benefit at a cost of $ 17,373 per QALY gained. Our results were robust over a number of scenarios and assumptions, including patients’ level of immunosuppression. Results were most sensitive to test characteristics and cost, and progression rates of normal to HGAIN and HGAIN to cancer. Conclusions Our results suggest that combined HRA and anal cytology at 6 and 12 months may be a cost-effective surveillance strategy following treatment of HGAIN in HIV-infected MSM. PMID:23486494

  14. A patient-specific model of the biomechanics of hip reduction for neonatal Developmental Dysplasia of the Hip: Investigation of strategies for low to severe grades of Developmental Dysplasia of the Hip.

    PubMed

    Huayamave, Victor; Rose, Christopher; Serra, Sheila; Jones, Brendan; Divo, Eduardo; Moslehy, Faissal; Kassab, Alain J; Price, Charles T

    2015-07-16

    A physics-based computational model of neonatal Developmental Dysplasia of the Hip (DDH) following treatment with the Pavlik Harness (PV) was developed to obtain muscle force contribution in order to elucidate biomechanical factors influencing the reduction of dislocated hips. Clinical observation suggests that reduction occurs in deep sleep involving passive muscle action. Consequently, a set of five (5) adductor muscles were identified as mediators of reduction using the PV. A Fung/Hill-type model was used to characterize muscle response. Four grades (1-4) of dislocation were considered, with one (1) being a low subluxation and four (4) a severe dislocation. A three-dimensional model of the pelvis-femur lower limb of a representative 10 week-old female was generated based on CT-scans with the aid of anthropomorphic scaling of anatomical landmarks. The model was calibrated to achieve equilibrium at 90° flexion and 80° abduction. The hip was computationally dislocated according to the grade under investigation, the femur was restrained to move in an envelope consistent with PV restraints, and the dynamic response under passive muscle action and the effect of gravity was resolved. Model results with an anteversion angle of 50° show successful reduction Grades 1-3, while Grade 4 failed to reduce with the PV. These results are consistent with a previous study based on a simplified anatomically-consistent synthetic model and clinical reports of very low success of the PV for Grade 4. However our model indicated that it is possible to achieve reduction of Grade 4 dislocation by hyperflexion and the resultant external rotation. PMID:25957995

  15. Calcification of basal ganglia and cerebellar roof nuclei in mentally defective patient with hidrotic ectodermal dysplasia. Analysis of intracranial concretions by electon microprobe.

    PubMed

    Copeland, D D; Lamb, W A; Klintworth, G K

    1977-11-01

    This report describes, for the first time, an analysis by electron microprobe of concretions in the brain of an individual with striopallidodentate calcification. We also report the unique association of this intracranial syndrome with hidrotic ectodermal dysplasia. An institutionalized male with impaired intellectual function and hidrotic ectodermal dysplasia was known since the age of 3 years to have bilateral radiopaque densities in the region of the basal ganglia on skull roentgenogram. He died at age 29 in congestive heart failure from rheumatic pancarditis. At autopsy, concretions were identified in globus pallidus, caudate nuclei, thalamus, and dentate nuclei. Mineral deposits within the brain, analyzed by energy dispersive x-ray microanalysis, consisted predominately of calcium and phosphorus. Trace amounts of magnesium, iron, and silicon also were detected. PMID:562997

  16. Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey.

    PubMed

    Andersen, P E; Hauge, M

    1989-01-01

    The point prevalence at birth of generalised bone dysplasias was estimated by a study of all children born between 1 January 1970 and 31 December 1983 in the county of Fyn (Denmark). Additionally the population prevalence on 31 December 1983 of all patients with generalised bone dysplasias in this county was determined. The county is a well defined, representative subregion of Denmark which demographically comprises a cross section of about 9% of the Danish population. In total, bone dysplasias were found to be more frequent than generally assumed. Achondroplasia was, however, less common with a point prevalence at birth of 1.3 per 100,000, while osteogenesis imperfecta (21.8), multiple epiphyseal dysplasia tarda (9.0), achondrogenesis (6.4), osteopetrosis (5.1), and thanatophoric dysplasia (3.8) were found more frequently. It is striking how many bone dysplasias are still erroneously classified as achondroplasia. Correct diagnosis is important for a valid prognosis, for treatment, and for genetic counselling. The diagnosis relies almost exclusively on the radiographical findings. PMID:2783977

  17. Alveolar Capillary Dysplasia

    PubMed Central

    Stankiewicz, Pawel; Steinhorn, Robin H.

    2011-01-01

    Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare, fatal developmental lung disorder of neonates and infants. This review aims to address recent findings in the etiology and genetics of ACD/MPV and to raise awareness of this poorly known disease, which may also present as milder, unclassified forms. Successively discussed are what is known about the epidemiology, pathogenesis, pathophysiology, diagnostic indicators and approaches, genetic testing, treatment, and cases of delayed onset. The review concludes with suggestions for future directions to answer the many unknowns about this disorder. PMID:21471096

  18. Endoscopic options for treatment of dysplasia in Barrett’s esophagus

    PubMed Central

    Vance, R Brooks; Dunbar, Kerry B

    2015-01-01

    Recent advances in the endoscopic treatment of dysplasia in Barrett’s esophagus (BE) have allowed endoscopists to provide effective and durable eradication therapies. This review summarizes the available endoscopic eradication techniques for dysplasia in patients with BE including endoscopic mucosal resection, endoscopic submucosal dissection, photodynamic therapy, argon plasma coagulation, radiofrequency ablation and cryotherapy. PMID:26722612

  19. Fibromuscular Dysplasia Presenting with Bilateral Renal Infarction

    SciTech Connect

    Doody, O.; Adam, W. R.; Foley, P. T.; Lyon, S. M.

    2009-03-15

    Fibromuscular dysplasia (FMD) describes a group of conditions which cause nonatheromatous arterial stenoses, most commonly of the renal and carotid arteries, typically in young women. We report a rare case of bilateral segmental renal infarction secondary to FMD in a young male patient. His initial presentation with loin pain and pyrexia resulted in a delay in the definitive diagnosis of FMD. He was successfully treated with bilateral balloon angioplasty. The delayed diagnosis in this patient until the condition had progressed to bilateral renal infarcts highlights the need for prompt investigation and diagnosis of suspected cases of FMD.

  20. Placentomegaly and placental mesenchymal dysplasia

    PubMed Central

    Rohilla, Minakshi; Siwatch, Sujata; Jain, Vanita; Nijhawan, Raje

    2012-01-01

    A 23-year-old primigravida presented to the labour ward at 37 weeks gestation referred with intrauterine growth restriction, oligohydramnios and placentomegaly. Differential diagnoses of placentomegaly were considered. Her antenatal blood screening tests were normal. There were no fetal malformations. However, triple screen and fetal karyotype were not done as patient presented late in pregnancy. The patient soon went into spontaneous labour and delivered a girl weighing 2.15 kg with a normal Apgar score. The cord was long and twisted; placenta was bulky, 1.7 kg, with prominent grape-like vesicles involving whole placenta with a rim of normal placenta at the periphery. Microscopy showed some areas of multiple villi with marked hydropic changes and myxoid degeneration, preserved vasculature and no trophoblastic proliferation. Placental mesenchymal dysplasia was thus diagnosed. The baby had no evidence of Beckwith-Wiedemann syndrome. The child is now 3 years old with normal development and is doing well. PMID:23266781

  1. Ectodermal Dysplasia: A Clinical Overview for the Dental Practitioner.

    PubMed

    Halai, Tina; Stevens, Claire

    2015-10-01

    The term ectodermal dysplasia (ED) is used to describe a group of rare congenital disorders characterized by abnormalities of two or more ectodermal structures such as the skin, hair, nails, teeth and sweat glands. This paper will give an overview of the aetiology of ED and describe the manifestations and dental management of this condition. In particular, the important role of the dental practitioner in the identification and management of patients with ED will be highlighted. CPD/Clinical Relevance: Dental practitioners should be aware of the oral features of ectodermal dysplasia and be able to make timely referrals and provide appropriate continuing care for these patients. PMID:26685476

  2. New directions in clinical imaging of cortical dysplasias.

    PubMed

    Madan, Neel; Grant, P Ellen

    2009-10-01

    Neuroimaging is essential in the work-up of patients with intractable epilepsy. In pediatric patients with medically refractory epilepsy, cortical dysplasias account for a large percentage of the epileptogenic substrate. Unfortunately, these are also the most subtle lesions to identify. For this reason, there has been ongoing interest in utilizing new advanced magnetic resonance imaging (MRI) techniques to improve the ability to identify, diagnose, characterize, and delineate cortical dysplasias. Technologic gains such as multichannel coils (32 phased array and beyond) and higher field strengths (3T, 7T, and greater) coupled with newer imaging sequences such as arterial spin labeling (ASL), susceptibility weighted imaging (SWI) and diffusion tensor/spectrum imaging (DTI/DSI) are likely to increase yield. Improved MRI techniques coupled with a multimodality approach including magnetoencephalography (MEG), positron emission tomography (PET), and other techniques will increase sensitivity and specificity for identifying cortical dysplasias. PMID:19761449

  3. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.

    PubMed

    Zaki, Maha S; Saleem, Sahar N; Dobyns, William B; Barkovich, A James; Bartsch, Hauke; Dale, Anders M; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G; Grijalvo-Perez, Ana Maria

    2012-08-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic 'butterfly'-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term 'diencephalic-mesencephalic junction dysplasia' to characterize this autosomal recessive malformation. PMID:22822038

  4. Genetics Home Reference: frontonasal dysplasia

    MedlinePlus

    ... Testing Registry: Frontonasal dysplasia 3 KidsHealth from Nemours: Cleft Lip and Palate MedlinePlus Encyclopedia: Head and Face Reconstruction ... Centers for Disease Control and Prevention: Facts about Cleft Lip and Cleft Palate Centers for Disease Control and ...

  5. Genetics Home Reference: metatropic dysplasia

    MedlinePlus

    ... is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is ... my area? Other Names for This Condition metatropic dwarfism metatropic dysplasia type 1 Related Information How are ...

  6. Genetics Home Reference: osteoglophonic dysplasia

    MedlinePlus

    ... images. Premature fusion of certain bones in the skull (craniosynostosis) typically occurs in osteoglophonic dysplasia . The craniosynostosis ... in the medical literature as a tower-shaped skull , or a relatively mild version of a deformity ...

  7. Genetics Home Reference: campomelic dysplasia

    MedlinePlus

    ... a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. ... those that are important for development of the skeleton and reproductive organs. Most cases of campomelic dysplasia ...

  8. Guide to Understanding Fibrous Dysplasia

    MedlinePlus

    ... is usually involved. It can also result in cranial nerve problems. If the temporal bone is affected, the ... paralysis or dizziness. However, any of our 12 cranial nerves can be involved with fibrous dysplasia. The more ...

  9. Genetics Home Reference: craniometaphyseal dysplasia

    MedlinePlus

    ... Craniofacial Association International Skeletal Dysplasia Registry, UCLA National ... F, Sørensen ES, Kaartinen MT, McKee MD. Pyrophosphate inhibits mineralization of osteoblast cultures by binding to mineral, up-regulating osteopontin, and ...

  10. Genetics Home Reference: acromicric dysplasia

    MedlinePlus

    ... ACROMICRIC DYSPLASIA Sources for This Page Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, ... or Free article on PubMed Central Klein C, Le Goff C, Topouchian V, Odent S, Violas P, Glorion ...

  11. Genetics Home Reference: frontometaphyseal dysplasia

    MedlinePlus

    ... bowed limbs, an abnormal curvature of the spine ( scoliosis ), and abnormalities of the fingers and hands. Characteristic ... and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. Am J Med Genet A. ...

  12. A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

    PubMed

    Tiedemann Svendsen, Mathias; Henningsen, Emil; Hertz, Jens Michael; Vestergaard Grejsen, Dorthe; Bygum, Anette

    2014-09-01

    Ectodermal dysplasias form a complex, nosologic group of diseases with defects in at least 2 ectodermal structures. A retrospective study of patients with ectodermal dysplasia seen at our department over a period of 19 years (1994-2013) was performed. The study population consisted of 67 patients covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large ectodermal dysplasia cohort focusing on clinical manifestations in combination with mutational analysis. We recommend a nationwide study to estimate the prevalence of the ectodermal dysplasia and to ensure relevant molecular genetic testing which may form the basis of a national ectodermal dysplasia database. PMID:24514865

  13. Bilateral Staged Total Hip Replacement and the Natural Progress of an Untreated Case of Developmental Dysplasia (Dislocation) of the Hip: A Clinical Case Report by the Surgeon and the Patient.

    PubMed

    Honarpisheh, Hamid; Ghazavi, Mohammad Taghi

    2015-07-01

    The natural history of an untreated case of a Developmental Dysplasia (Dislocation) of the Hip (DDH) associated with multiple congenital abnormalities is reported in a 55-years-old man. The patient's complaints and the varieties of the typical manifestations emerged in other parts of the body throughout the life are reviewed and discussed as comorbidities of a dysplastic condition. Two-stage bilateral total hip replacement (THR) operations were performed at the age of 55. In addition, to relieve the pain, the walking disabilities were overcome, hence gaining normal walking in swing and stances. The leg length discrepancy was corrected by anatomically positioned prostheses, examined by the knee bending test and characterized and evidenced by radiological features and indices. PMID:26170527

  14. Langerhans cells and T cells sense cell dysplasia in oral leukoplakias and oral squamous cell carcinomas--evidence for immunosurveillance.

    PubMed

    Öhman, J; Magnusson, B; Telemo, E; Jontell, M; Hasséus, B

    2012-07-01

    Leukoplakias (LPLs) are lesions in the oral mucosa that may develop into oral squamous cell carcinoma (OSCC). The objective of this study was to assess presence and distribution of dendritic Langerhans cells (LCs) and T cells in patients with LPLs with or without cell dysplasia and in oral squamous cell carcinoma (OSCC). Biopsy specimens from patients with leukoplakias (LPLs) with or without dysplasia and oral squamous cell carcinoma (OSCC) were immunostained with antibodies against CD1a, Langerin, CD3, CD4, CD8 and Ki67, followed by quantitative analysis. Analyses of epithelium and connective tissue revealed a significantly higher number of CD1a + LCs in LPLs with dysplasia compared with LPLs without dysplasia. Presence of Langerin + LCs in epithelium did not differ significantly between LPLs either with or without dysplasia and OSCC. T cells were found in significantly increased numbers in LPLs with dysplasia and OSCC. The number of CD4+ cells did not differ significantly between LPLs with and without dysplasia, but a significant increase was detected when comparing LPLs with dysplasia with OSCC. CD8+ cells were significantly more abundant in OSCC and LPLs with dysplasia compared with LPLs without dysplasia. Proliferating cells (Ki67+) were significantly more abundant in OSCC compared to LPLs with dysplasia. Confocal laser scanning microscopy revealed colocalization of LCs and T cells in LPLs with dysplasia and in OSCC. LCs and T cells are more numerous in tissue compartments with dysplastic epithelial cells and dramatically increase in OSCC. This indicates an ongoing immune response against cells with dysplasia. PMID:22469080

  15. Clinical features of multiple epiphyseal dysplasia expressed in the knee.

    PubMed

    Miura, H; Noguchi, Y; Mitsuyasu, H; Nagamine, R; Urabe, K; Matsuda, S; Iwamoto, Y

    2000-11-01

    The purpose of this study is to clarify the clinical features of the knee affected by multiple epiphyseal dysplasia. Thirty-one cases of multiple epiphyseal dysplasia were reviewed. Of the patients, 11 were male and 20 were female. The average age at onset of symptoms was 22.5 years. The average age at initial visit to the authors' hospital was 28.9 years. Radiographic findings showed epiphyseal abnormality of the knee in all but two (93%) cases. Irregularity, segmentation of the epiphysis, widening of the joint space, and genu valgum deformity were the dominant findings before epiphyseal closure. After epiphyseal closure, the most characteristic finding was a shallow femoral trochlear groove, which was observed in 56.5% of the cases. Other findings in adult patients included early onset osteoarthritic change, genu valgum, depression of the lateral tibial plateau, and multiple free bodies. However, there still is a possibility that multiple epiphyseal dysplasia exists, even if the patient lacks a shallow femoral trochlear groove. If genu valgum or varum, free bodies, and premature osteoarthritis are observed, one should evaluate other joints, keeping a diagnosis of multiple epiphyseal dysplasia in mind. Patients with knees that have a femoral trochlear groove of normal or near normal shape do exist, and premature osteoarthritic changes may develop in such patients. PMID:11064990

  16. Intestinal epithelial dysplasia (tufting enteropathy).

    PubMed

    Goulet, Olivier; Salomon, Julie; Ruemmele, Frank; de Serres, Natacha Patey-Mariaud; Brousse, Nicole

    2007-01-01

    Intestinal epithelial dysplasia (IED), also known as tufting enteropathy, is a congenital enteropathy presenting with early-onset severe intractable diarrhea causing sometimes irreversible intestinal failure. To date, no epidemiological data are available, however, the prevalence can be estimated at around 1/50,000-100,000 live births in Western Europe. The prevalence seems higher in areas with high degree of consanguinity and in patients of Arabic origin. Infants develop within the first days after birth a watery diarrhea persistent in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal rectal or esophageal atresia. IED is thought to be related to abnormal enterocytes development and/or differentiation. Nonspecific punctuated keratitis was reported in more than 60% of patients. Histology shows various degree of villous atrophy, with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium with disorganization of surface enterocytes with focal crowding, resembling tufts. Several associated specific features were reported, including abnormal deposition of laminin and heparan sulfate proteoglycan (HSPG) in the basement membrane, increased expression of desmoglein and ultrastructural changes in the desmosomes, and abnormal distribution of alpha2beta1 integrin adhesion molecules. One model of transgenic mice in which the gene encoding the transcription factor Elf3 is disrupted have morphologic features resembling IED. Parental consanguinity and/or affected siblings suggest an autosomal recessive transmission but the causative gene(s) have not been yet identified making prenatal diagnosis unavailable. Some infants have a milder phenotype than others but in most patients, the severity of the intestinal malabsorption even with enteral feeding make them totally dependent on daily long-term parenteral nutrition with a subsequent risk of complications

  17. Epithelial dysplasia of the oral cavity and lips.

    PubMed

    Kaugars, G E; Burns, J C; Gunsolley, J C

    1988-11-15

    Between 1970 and 1986, 1651 biopsy specimens from the oral cavity or lips with a diagnosis of epithelial dysplasia were accessioned by the Medical College of Virginia Oral Pathology Diagnostic Service (Richmond, VA). Of the four histologic grades of epithelial dysplasia (focal mild, mild, moderate, and severe), most of the cases were diagnosed as mild (54.1%) and the fewest (8.1%) were in the severe category. The overall mean age at time of diagnosis was 56.7 years. A predilection for occurrence in males was confirmed, but a lower than expected incidence in blacks was noted. The most common anatomic sites were the buccal mucosa, palate, and floor of mouth. The anatomic areas which were most likely to have a severe epithelial dysplasia were the ventral surface of the tongue and the lip. Patients with dysplasias in more than one site had a slightly higher probability of being diagnosed as either moderate or severe. The cases associated with lichen planus usually were found on the buccal mucosa and demonstrated a shift toward a milder degree of dysplasia. PMID:3179929

  18. Dysplasia and carcinoma in situ of the urinary bladder.

    PubMed

    Lopez-Beltran, Antonio; Marques, Rita C; Montironi, Rodolfo; Reymundo, Carlos; Fonseca, Jorge; Cheng, Liang

    2015-02-01

    Urothelial dysplasia (low-grade intraurothelial neoplasia) is recognized as a premalignant urothelial lesion in the 2004 World Health Organization (WHO) classification system. Although clarification of the diagnostic criteria of urothelial dysplasia has improved in recent years, there is still a lack of interobserver reproducibility. Active clinical follow-up is mandatory in patients with a diagnosis of urothelial dysplasia since it constitutes a marker of urothelial instability, and disease progression, in up to 19% of cases. The differential diagnosis of urothelial dysplasia is with other flat urothelial lesions with atypia, including flat urothelial hyperplasia, reactive urothelial atypia, urothelial atypia of unknown significance, and urothelial carcinoma in situ (high-grade intraurothelial neoplasia). In most cases, especially when small amounts of tissue are available, morphologic features alone may not be sufficient for diagnosis. Immunohistochemistry can be of help in selected cases, and a panel of cytokeratin 20, p53, and CD44 may help in the diagnosis. The use of HER2, p16, and Racemase remains as an option pending validation. Herein, we present the pathologic features and clinical significance of urothelial dysplasia and carcinoma in situ with emphasis on differential diagnosis from common flat lesions with atypia. PMID:26072632

  19. Computed tomographic features of fibrous dysplasia of maxillofacial region

    PubMed Central

    Karjodkar, Freny R; Umarji, Hemant R

    2011-01-01

    Purpose This study was to find the computed tomographic features of fibrous dysplasia of the maxillofacial region. Materials and Methods All eight cases included in the study reported either to Government Dental College and Hospital or Nair Hospital Dental College, Mumbai between 2003 and 2009. The patients were prescribed computed tomogram in addition to conventional radiographs of maxillofacial region which were studied for characteristic features of fibrous dysplasia. The diagnosis of fibrous dysplasia was confirmed by histopathological report. Results All cases showed the ill-defined margins of lesions except in the region where the lesions were extending to cortex of the involved bone. Internal structure of all cases showed ground glass appearance. Four cases of maxillary lesion showed the displacement of maxillary sinus maintaining the shape of maxillary sinus. Two cases showed complete obliteration of maxillary sinus. Displacement of inferior alveolar canal did not follow any typical pattern in any of the cases but was displaced in different directions. Conclusion The craniofacial type of fibrous dysplasia is as common as fibrous dysplasia of jaw. The margins, extent, internal structure and effect on surrounding structure are well detected on computed tomographic images. PMID:21977470

  20. Cerebrospinal fluid otorhinorrhea due to cochlear dysplasias.

    PubMed

    Syal, Rajan; Tyagi, Isha; Goyal, Amit

    2005-07-01

    Cochlear dysplasia associated with defect in stapes footplate can be a cause of cerebrospinal fluid leak. Repair of cerebrospinal fluid leak in these cases is usually done by packing the vestibule with muscle or fascia. This traditional method of repair has 30-60% failure rate. Cerebrospinal fluid leak in four such patients was successfully repaired using multiple layer packing of vestibule, reinforced by pedicle temporalis muscle graft. Intraoperatively continuous lumbar drain was done. Magnetic resonance imaging of inner ear using 3D FSE T2WI and 3D FIESTA sequences was found helpful noninvasive investigation to localize site and route of cerebrospinal fluid leak. PMID:15911019

  1. A case of thanatophoric dysplasia type 2: a novel mutation.

    PubMed

    Gülaşı, Selvi; Atıcı, Aytuğ; Çelik, Yalçın

    2015-03-01

    Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with short-limb dwarfism. Two types distinguished with their radiological characteristics have been defined clinically. The femur is curved in type 1, while it is straight in type 2. TD is known to be due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. We report a male patient who showed clinical findings congruent with TD type 2 and a new mutation in the FGFR3 gene, a finding which has not been reported previously. PMID:25800480

  2. Elucidating drivers of oral epithelial dysplasia formation and malignant transformation to cancer using RNAseq

    PubMed Central

    Conway, Caroline; Graham, Jennifer L.; Chengot, Preetha; Daly, Catherine; Chalkley, Rebecca; Ross, Lisa; Droop, Alastair; Rabbitts, Pamela; Stead, Lucy F.

    2015-01-01

    Oral squamous cell carcinoma (OSCC) is a prevalent cancer with poor prognosis. Most OSCC progresses via a non-malignant stage called dysplasia. Effective treatment of dysplasia prior to potential malignant transformation is an unmet clinical need. To identify markers of early disease, we performed RNA sequencing of 19 matched HPV negative patient trios: normal oral mucosa, dysplasia and associated OSCC. We performed differential gene expression, principal component and correlated gene network analysis using these data. We found differences in the immune cell signatures present at different disease stages and were able to distinguish early events in pathogenesis, such as upregulation of many HOX genes, from later events, such as down-regulation of adherens junctions. We herein highlight novel coding and non-coding candidates for involvement in oral dysplasia development and malignant transformation, and speculate on how our findings may guide further translational research into the treatment of oral dysplasia. PMID:26515596

  3. Ureaplasma and bronchopulmonary dysplasia.

    PubMed

    Gancia, Paolo; Delogu, Antonio; Pomero, Giulia

    2014-03-01

    Advances in neonatal intensive care have greatly improved survival rates for children born in a very early stage of lung development (i.e. less than 26 weeks of gestation). In these premature babies, even low levels of oxygen and methods of minimally invasive ventilation may disrupt the growth of the distal airways, a condition described as "new" bronchopulmonary dysplasia (BPD). Ureaplasma infection can occur in utero or in the perinatal period in premature infants, in some of which the infection with these organisms triggers an important lung pro-inflammatory and pro-fibrotic response, and may increase the risk of developing BPD. The inflammation may be worsened by exposure to oxygen and mechanical ventilation. At present, clinical studies have not clarified the role of Ureaplasma in the pathogenesis of BPD and there is insufficient evidence to determine whether antibiotic treatment of Ureaplasma has influence on the development of BPD and its comorbidities. Future research in the context of well-designed and controlled clinical trials of adequate statistical power should focus on how to determine whether the treatment of Ureaplasma decreases lung inflammation, reduces rates of BPD, and improves long-term neurodevelopment. PMID:24709455

  4. Photocoagulation therapy for laryngeal dysplasia using angiolytic lasers.

    PubMed

    Kishimoto, Yo; Suzuki, Ryo; Kawai, Yoshitaka; Hiwatashi, Nao; Kitamura, Morimasa; Tateya, Ichiro; Hirano, Shigeru

    2016-05-01

    In the management of laryngeal pre-cancerous lesions such as dysplasia or carcinoma in situ (CIS), it is important that lesion regression occur without any complications. As a minimally invasive treatment option, photocoagulation therapy using angiolytic lasers has been attracting attention. Therapeutic effects have been reported for this type of treatment, however, vocal function after treatment has not been well discussed. In this retrospective case series, we examined the therapeutic effects of photocoagulation therapy on laryngeal dysplasia and the impact on vocal function. Twenty-four patients with laryngeal dysplasia or CIS were treated with photocoagulation therapy using angiolytic lasers. Two patients were treated under general anesthesia, the remaining 22 patients were treated with topical anesthesia. Before and after treatment the extent of the lesion and vocal function was evaluated by endoscopic examination and acoustic and aerodynamic analyses, respectively. More than 50 % disease regression was observed in 20 of 24 patients. Acoustic and aerodynamic analyses revealed improvement in pitch perturbation quotient with no impairment in other parameters. Photocoagulation therapy using angiolytic lasers has proven to be feasible and safe for the treatment of laryngeal dysplasia. PMID:26742908

  5. Focal Cortical Dysplasia (FCD) lesion analysis with complex diffusion approach.

    PubMed

    Rajan, Jeny; Kannan, K; Kesavadas, C; Thomas, Bejoy

    2009-10-01

    Identification of Focal Cortical Dysplasia (FCD) can be difficult due to the subtle MRI changes. Though sequences like FLAIR (fluid attenuated inversion recovery) can detect a large majority of these lesions, there are smaller lesions without signal changes that can easily go unnoticed by the naked eye. The aim of this study is to improve the visibility of focal cortical dysplasia lesions in the T1 weighted brain MRI images. In the proposed method, we used a complex diffusion based approach for calculating the FCD affected areas. Based on the diffused image and thickness map, a complex map is created. From this complex map; FCD areas can be easily identified. MRI brains of 48 subjects selected by neuroradiologists were given to computer scientists who developed the complex map for identifying the cortical dysplasia. The scientists were blinded to the MRI interpretation result of the neuroradiologist. The FCD could be identified in all the patients in whom surgery was done, however three patients had false positive lesions. More lesions were identified in patients in whom surgery was not performed and lesions were seen in few of the controls. These were considered as false positive. This computer aided detection technique using complex diffusion approach can help detect focal cortical dysplasia in patients with epilepsy. PMID:19560319

  6. Multidisciplinary management of hypohydrotic ectodermal dysplasia – a case report

    PubMed Central

    Joseph, Suja; Cherackal, George J; Jacob, Jose; Varghese, Alex K

    2015-01-01

    Key Clinical Message Hypohydrotic ectodermal dysplasia is a hereditary disorder, which affects ectodermal derivatives. It manifests several abnormalities of the teeth, and is commonly inherited through female carriers. This case report presents a patient with compromised esthetics and function. A multidisciplinary approach was planned involving an oral pathologist, endodontist, orthodontist and a prosthodontist. PMID:25984305

  7. Avascular necrosis of the hip in multiple epiphyseal dysplasia

    SciTech Connect

    Mackenzie, W.G.; Bassett, G.S.; Mandell, G.A.; Scott, C.I. Jr. )

    1989-11-01

    We observed radiographic changes of avascular necrosis (AVN) of the capital femoral epiphysis in 9 hips of 11 patients with multiple epiphyseal dysplasia (MED). Plain roentgenography, bone scintigraphy, and magnetic resonance imaging (MRI) studies all revealed characteristic asymmetric changes in the presence of AVN superimposed on dysplastic femoral heads.

  8. Ectodermal Dysplasia: A Genetic Review

    PubMed Central

    Prashanth, S

    2012-01-01

    Abstract Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202. PMID:25206167

  9. Ectodermal dysplasia: a genetic review.

    PubMed

    Deshmukh, Seema; Prashanth, S

    2012-09-01

    Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202. PMID:25206167

  10. Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia.

    PubMed

    Polat, Ayşe İpek; Yiş, Uluç; Ayanoğlu, Müge; Hız, Ayşe Semra; Güleryüz, Handan; Öztürk Atasoy, Tülay; Boerkoel, Cornelius F

    2015-01-01

    Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 gene (SMARCAL1). SMARCAL1 product is a helicase that has role in selective cellular proliferation. The disorder is characterized by spondyloepiphyseal dysplasia with short stature, nephropathy, T cell deficiency, neurologic and cutaneous signs. Patients may have hyperpigmented skin lesions similar to café au lait spots. Symptoms and disease severity in Schimke immuno-osseous dysplasia varies from patient to patient. Genetic, epigenetic and environmental factors play role on the severity of the disease. Here we report on a patient with short stature, steroid resistant nephrotic syndrome and recurrent infections. Cutaneous findings and developmental delay helped us to reach the diagnosis of Schimke immuno-osseous dysplasia. A homozygous missense mutation in SMARCAL1 gene confirmed the clinical diagnosis. PMID:27411420

  11. Rab11 in dysplasia of Barrett's epithelia.

    PubMed Central

    Goldenring, J. R.; Ray, G. S.; Lee, J. R.

    1999-01-01

    Barrett's esophagus predisposes affected patients to the development of esophageal adenocarcinoma. The development of adenocarcinoma proceeds along a progression through low- and high-grade dysplasia. Surveillance of Barrett's patients requires serial endoscopic investigations and grading mucosal biopsies. Unfortunately, grading of biopsies by conventional hematoxylin and eosin staining is fraught with significant interobserver variations. We have found in both biopsy and resection specimens that immunostaining for the small GTP binding protein Rab11 is increased in low-grade dysplastic cells. This staining is lost in high-grade dysplastic cells. These results suggest that low-grade dysplastic cells undergo an apical trafficking blockade, which is released as cells progress to the less differentiated phenotype of high-grade dysplasia and adenocarcinoma. Examination of the SKGT-4 esophageal adenocarcinoma cell line demonstrated prominent mRNA and protein expression for Rab11. Rab11 immunostaining was present in SKGT-4 cells as a perinuclear nidus of punctate staining along with a more diffuse punctate pattern. Thus, Rab11 expression was present in a esophageal adenocarcinoma cells in culture. Markers of vesicle trafficking may be critical factors for grading of mucosal dysplastic transitions leading to adenocarcinoma. Images Figure 1 Figure 2 Figure 3 PMID:10780572

  12. The nature of fibrous dysplasia

    PubMed Central

    2009-01-01

    Fibrous dysplasia has been regarded as a developmental skeletal disorder characterized by replacement of normal bone with benign cellular fibrous connective tissue. It has now become evident that fibrous dysplasia is a genetic disease caused by somatic activating mutation of the Gsα subunit of G protein-coupled receptor resulting in upregulation of cAMP. This leads to defects in differentiation of osteoblasts with subsequent production of abnormal bone in an abundant fibrous stroma. In addition there is an increased production of IL-6 by mutated stromal fibrous dysplastic cells that induce osteoclastic bone resorption. PMID:19895712

  13. Campomelic dysplasia and malignant hyperthermia

    PubMed Central

    Barros, Andreia; Teixeira, Filomena; Camacho, Maria Carmo; Alves, Cristina

    2011-01-01

    Campomelic dysplasia (CD) is a rare clinical entity, usually fatal in the first year of life. It is characterised by bowing and angulations of long bones, along with other congenital anomalies. The occurrence of malignant hyperthermia is rare, but it has been associated with skeletal dysplasias. The authors present the case of a boy, born at 40 weeks of gestational age, with multiple congenital anomalies and subsequently diagnosed with CD, who died at 16 months of age as a consequence of malignant hyperthermia. PMID:22691592

  14. Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

    PubMed

    Dwyer, Ellen; Hyland, James; Modaff, Peggy; Pauli, Richard M

    2010-12-01

    Mutations in diastrophic dysplasia sulfate transporter (DTDST) cause a spectrum of autosomal recessive chondrodysplasias. In decreasing order of severity, they include processes designated as achondrogenesis type IB (ACG-1B), atelosteogenesis type II (AO2), diastrophic dysplasia (DTD), diastrophic dysplasia variant (DTDv), and recessively inherited multiple epiphyseal dysplasia (rMED). This is the first report of an extended family with unequivocally distinct phenotypes on the DTDST spectrum. Two siblings have DTDv and their first cousin had AO2. They all share the common Finnish mutation (IVS1 + 2C>T). The two patients with DTDv have the previously reported R279W extracellular domain missense mutation. The second mutation in the patient with AO2 is c.172delA, a deletion of one nucleotide causing a previously unreported frameshift mutation. This is the first published case of an individual with a frameshift mutation combined with the Finnish mutation. These three patients provide an opportunity, in concert with a review of previous literature, to further examine the genotype-phenotype correlation of DTDST. Analysis suggests that, while the DTDST family of disorders contains at least seven different conditions, mutations in the DTDST gene, in fact, appear to cause a phenotypic continuum. Furthermore, DTDST genotype alone is an imperfect predictor of clinical severity along this continuum. PMID:21077202

  15. 7 tesla T2*-weighted MRI as a tool to improve detection of focal cortical dysplasia.

    PubMed

    Veersema, Tim J; van Eijsden, Pieter; Gosselaar, Peter H; Hendrikse, Jeroen; Zwanenburg, Jaco J M; Spliet, Wim G M; Aronica, Eleonora; Braun, Kees P J; Ferrier, Cyrille H

    2016-09-01

    Focal cortical dysplasia is one of the most common underlying pathologies in patients who undergo surgery for refractory epilepsy. Absence of a MRI-visible lesion necessitates additional diagnostic tests and is a predictor of poor surgical outcome. We describe a series of six patients with refractory epilepsy due to histopathologically-confirmed focal cortical dysplasia, for whom pre-surgical 7 tesla T2*-weighted MRI was acquired. In four of six patients, T2* sequences showed areas of marked superficial hypointensity, co-localizing with the epileptogenic lesion. 7 tesla T2* hypointensities overlying focal cortical dysplasia may represent leptomeningeal venous vascular abnormalities associated with the underlying dysplastic cortex. Adding T2* sequences to the MRI protocol may aid in the detection of focal cortical dysplasias. PMID:27435411

  16. Colorectal cancer and dysplasia in inflammatory bowel disease.

    PubMed

    Zisman, Timothy L; Rubin, David T

    2008-05-01

    Both ulcerative colitis and Crohn's disease carry an increased risk of developing colorectal cancer. Established risk factors for cancer among patients with inflammatory bowel disease (IBD) include the younger age at diagnosis, greater extent and duration of disease, increased severity of inflammation, family history of colorectal cancer and coexisting primary sclerosing cholangitis. Recent evidence suggests that current medical therapies and surgical techniques for inflammatory bowel disease may be reducing the incidence of this complication. Nonetheless heightened vigilance and a careful, comprehensive approach to prevent or minimize the complications of invasive cancer are warranted in this unique cohort of patients. Current guidelines for the prevention and early detection of cancer in this high risk population are grounded in the concept of an inflammation-dysplasia-carcinoma sequence. A thorough understanding of the definition and natural history of dysplasia in IBD, as well as the challenges associated with detection and interpretation of dysplasia are fundamental to developing an effective strategy for surveillance and prevention, and understanding the limitations of the current approach to prevention. This article reviews the current consensus guidelines for screening and surveillance of cancer in IBD, as well as presenting the evidence and rationale for chemoprevention of cancer and a discussion of emerging technologies for the detection of dysplasia. PMID:18461651

  17. Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis.

    PubMed

    Singh, Sumit; Qin, Curtis; Medarametla, Srikanth; Hegde, Shilpa V

    2016-09-01

    We report a 14-month-old male with craniometaphyseal dysplasia (CMD). The patient presented with a history of diminishing vision and hearing loss. Cranial computed tomography scan showed diffuse calvarial and skull base hyperostosis with excessive bone narrowing the internal auditory canals and skull base foramina. A subsequent skeletal survey revealed other skeletal abnormalities, which led to the diagnosis of CMD. This was later confirmed by ANKH mutation. CMD is a rare genetic disorder that belongs to the group of craniotubular bone dysplasias. It is important to recognize this condition from other causes of craniotubular bone dysplasias to institute early treatment and explain prognosis. PMID:27594963

  18. [Fibrous dysplasia of the skull. Radiologic diagnosis].

    PubMed

    Amato, C; Moschini, M; Colavita, N; Tagliaferri, G

    1993-09-01

    The authors examined 11 patients with fibrous dysplasia of the skull pointing out its radiologic features and preferential sites. Conventional radiology, CT and MR imaging were used. As for conventional radiology, tangential scans which of great value to depict the most typical morphologic patterns. Lesions of the skull base were most frequent in the sphenoid (7 of 11 cases), where 5 of 7 exhibited a sclerotic pattern. Bone changes in the skull vault were: mixed (3 cases), pagetoid (2 cases), "ground glass" (1 case) and lytic (1 case): none of these cases was of the sclerotic type. A typical feature of vault lesions was the widening of diploic space associated with expansion of the outer bone and integrity of the inner bone. Radiologic findings, often associated with suggestive clinical manifestations, always allowed a diagnostic hypothesis; histopathologic confirmation was needed only in a few cases (4 of 11 patients). PMID:8210526

  19. Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.

    PubMed

    Salinas-Torres, V M

    2015-01-01

    Here is reported for the first time, a case of thanatophoric dysplasia type 1 with cloverleaf skull in a (Mexican) dichorionic female twin. The patient's main clinical and radiographic findings included severe limb shortening, narrow thorax shape; short ribs, marked platyspondyly, curved short femurs, and a cloverleaf skull. The female twin sib had normal growth parameters and phenotypic appearance. According to the literature, cloverleaf skull in thanatophoric dysplasia type 1 is rare, even more so in dichorionic twins. Moreover, the present observation confirms that thanatophoric dysplasia type 1 patients may show phenotypic heterogeneity related to cloverleaf skull and other congenital anomalies. Therefore, a careful family history along with clinical, radiological, and molecular investigations is suggested, in order to achieve an accurate parental counseling for thanatophoric dysplasia. PMID:26043509

  20. Clinical significance and management of Barrett's esophagus with epithelial changes indefinite for dysplasia.

    PubMed

    Thota, Prashanthi N; Kistangari, Gaurav; Esnakula, Ashwini K; Gonzalo, David Hernandez; Liu, Xiu-Li

    2016-08-01

    Barrett's esophagus (BE) is defined as the extension of salmon-colored mucosa into the tubular esophagus ≥ 1 cm proximal to the gastroesophageal junction with biopsy confirmation of intestinal metaplasia. Patients with BE are at increased risk of esophageal adenocarcinoma (EAC), and undergo endoscopic surveillance biopsies to detect dysplasia or early EAC. Dysplasia in BE is classified as no dysplasia, indefinite for dysplasia (IND), low grade dysplasia (LGD) or high grade dysplasia (HGD). Biopsies are diagnosed as IND when the epithelial abnormalities are not sufficient to diagnose dysplasia or the nature of the epithelial abnormalities is uncertain due to inflammation or technical issues. Specific diagnostic criteria for IND are not well established and its clinical significance and management has not been well studied. Previous studies have focused on HGD in BE and led to changes and improvement in the management of BE with HGD and early EAC. Only recently, IND and LGD in BE have become focus of intense study. This review summarizes the definition, neoplastic risk and clinical management of BE IND. PMID:27602241

  1. Clinical significance and management of Barrett’s esophagus with epithelial changes indefinite for dysplasia

    PubMed Central

    Thota, Prashanthi N; Kistangari, Gaurav; Esnakula, Ashwini K; Gonzalo, David Hernandez; Liu, Xiu-Li

    2016-01-01

    Barrett’s esophagus (BE) is defined as the extension of salmon-colored mucosa into the tubular esophagus ≥ 1 cm proximal to the gastroesophageal junction with biopsy confirmation of intestinal metaplasia. Patients with BE are at increased risk of esophageal adenocarcinoma (EAC), and undergo endoscopic surveillance biopsies to detect dysplasia or early EAC. Dysplasia in BE is classified as no dysplasia, indefinite for dysplasia (IND), low grade dysplasia (LGD) or high grade dysplasia (HGD). Biopsies are diagnosed as IND when the epithelial abnormalities are not sufficient to diagnose dysplasia or the nature of the epithelial abnormalities is uncertain due to inflammation or technical issues. Specific diagnostic criteria for IND are not well established and its clinical significance and management has not been well studied. Previous studies have focused on HGD in BE and led to changes and improvement in the management of BE with HGD and early EAC. Only recently, IND and LGD in BE have become focus of intense study. This review summarizes the definition, neoplastic risk and clinical management of BE IND. PMID:27602241

  2. Detection of colorectal dysplasia using fluorescently labelled lectins

    PubMed Central

    Kuo, Joe Chin-Hun; Ibrahim, Ashraf E. K.; Dawson, Sarah; Parashar, Deepak; Howat, William J.; Guttula, Kiran; Miller, Richard; Fearnhead, Nicola S.; Winton, Douglas J.; Neves, André A.; Brindle, Kevin M.

    2016-01-01

    Colorectal cancer screening using conventional colonoscopy lacks molecular information and can miss dysplastic lesions. We tested here the ability of fluorescently labelled lectins to distinguish dysplasia from normal tissue when sprayed on to the luminal surface epithelium of freshly resected colon tissue from the Apcmin mouse and when applied to fixed human colorectal tissue sections. Wheat germ agglutinin (WGA) showed significantly decreased binding to adenomas in the mouse tissue and in sections of human colon from 47 patients. Changes in WGA binding to the human surface epithelium allowed regions containing normal epithelium (NE) or hyperplastic polyps (HP) to be distinguished from regions containing low-grade dysplasia (LGD), high-grade dysplasia (HGD) or carcinoma (C), with 81% sensitivity, 87% specificity and 93% positive predictive value (PPV). Helix pomatia agglutinin (HGA) distinguished epithelial regions containing NE from regions containing HP, LGD, HGD or C, with 89% sensitivity, 87% specificity and 97% PPV. The decreased binding of WGA and HPA to the luminal surface epithelium in human dysplasia suggests that these lectins may enable more sensitive detection of disease in the clinic using fluorescence colonoscopy. PMID:27071814

  3. Detection of colorectal dysplasia using fluorescently labelled lectins.

    PubMed

    Kuo, Joe Chin-Hun; Ibrahim, Ashraf E K; Dawson, Sarah; Parashar, Deepak; Howat, William J; Guttula, Kiran; Miller, Richard; Fearnhead, Nicola S; Winton, Douglas J; Neves, André A; Brindle, Kevin M

    2016-01-01

    Colorectal cancer screening using conventional colonoscopy lacks molecular information and can miss dysplastic lesions. We tested here the ability of fluorescently labelled lectins to distinguish dysplasia from normal tissue when sprayed on to the luminal surface epithelium of freshly resected colon tissue from the Apc(min) mouse and when applied to fixed human colorectal tissue sections. Wheat germ agglutinin (WGA) showed significantly decreased binding to adenomas in the mouse tissue and in sections of human colon from 47 patients. Changes in WGA binding to the human surface epithelium allowed regions containing normal epithelium (NE) or hyperplastic polyps (HP) to be distinguished from regions containing low-grade dysplasia (LGD), high-grade dysplasia (HGD) or carcinoma (C), with 81% sensitivity, 87% specificity and 93% positive predictive value (PPV). Helix pomatia agglutinin (HGA) distinguished epithelial regions containing NE from regions containing HP, LGD, HGD or C, with 89% sensitivity, 87% specificity and 97% PPV. The decreased binding of WGA and HPA to the luminal surface epithelium in human dysplasia suggests that these lectins may enable more sensitive detection of disease in the clinic using fluorescence colonoscopy. PMID:27071814

  4. Surgical treatment of hip dysplasia in children and adolescents.

    PubMed

    Bittersohl, Bernd; Hosalkar, Harish S; Wenger, Dennis R

    2012-07-01

    Residual hip dysplasia (a relatively common condition in young children and adolescents) left undetected or partially treated, almost certainly leads to further progression of deformity, eventually ending in a nonfunctional, painful hip joint. Therefore, every effort should be made to identify and treat hip dysplasia early.The use of 3D imaging, including CT and MRI assessment, has enhanced the diagnosis and treatment of patients with dysplasia because they facilitate proper identification of important pathomorphologic anatomy and cartilage degeneration. Future studies should take these novel imaging modalities into consideration with the attempt to (re-) evaluate optimal selection criteria for surgery, risk factors for clinical failure and optimal deformity correction. Treatment of residual hip dysplasia requires corrective surgery. The goal of surgical treatment is to normalize joint loading by increasing the contact area and improving the level arm of the hip to forestall the development of OA. Proper selection and performance of a correction osteotomy and adjunctive procedures are prerequisites for a good clinical outcome and high survivorship of the reconstructed hip. Augmentation procedures, such as the Chiari osteotomy or the shelf procedure described by Staheli, remain as a salvage option in cases when irreversible cartilage damage is present or when reorientation is not feasible. PMID:22819159

  5. Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia.

    PubMed

    Groenen, P M; Garcia, E; Thoelen, R; Aly, M; Schoenmakers, E F; Devriendt, K; Fryns, J P; Van de Ven, W J

    1996-01-01

    Hydronephrosis caused by pelvi-ureteric junction obstruction (PUJO) is a frequent urological malformation assumed to result from a deficient development of the ureteric bud. The exact etiology of pelvi-ureteric junction stenosis is unknown, but there is convincing evidence for a genetic cause, with linkage analysis predicting a hereditary hydronephrosis locus on chromosome 6p. We encountered a patient with a de novo autosomal t(6;19)(p21;q13.1) and attendant bilateral multicystic renal dysplasia (MRD), bilateral PUJO resulting in massive hydronephrosis, and an associated von Mayer-Rokitansky-Kuster disorder. On the basis of the presumption that in this patient the putative hydronephrosis gene might be disrupted by the translocation, we sought to isolate DNA from the breakpoint regions as the initial step in a strategy to identify genes affected by the t(6; 19). Using sequential rounds of fluorescence in situ hybridization (FISH) with cosmids selected from a detailed integrated map of the long arm of chromosome 19, we have identified a cosmid clone that spans the breakpoint. The position of the breakpoint was further localized by Southern blot analysis. Using a vectorette PCR approach, rearranged DNA fragments were isolated and, by comparative nucleotide sequence analysis, these were shown to contain ectopic sequences. A cosmid clone containing these ectopic sequences was isolated and shown by CASH (chromosome assignment using somatic cell hybrids) and FISH (fluorescence in situ hybridization) analysis to map to the short arm of chromosome 6 and to span the breakpoint found in the MRD patient. The isolated cosmid clones are useful reagents for analysis of other MRD patients and for the search for genes at or flanking the breakpoints. PMID:9067426

  6. Bernese periacetabular osteotomy for hip dysplasia: Surgical technique and indications

    PubMed Central

    Kamath, Atul F

    2016-01-01

    For young, active patients with healthy hip cartilage, pelvic osteotomy is a surgical option in to address hip pain and to improve mechanical loading conditions related to dysplasia. Hip dysplasia may lead to arthrosis at an early age due to poor coverage of the femoral head and abnormal loading of the joint articulation. In patients with symptomatic dysplasia and closed triradiate cartilage (generally over age 10), including adolescents and young adults (generally up to around age 40), the Bernese periacetabular osteotomy (PAO) is a durable technique for addressing underlying structural deformity. The PAO involves a modified Smith-Petersen approach. Advantages of the Bernese osteotomy include preservation of the weight-bearing posterior column of the hemi-pelvis, preservation of the acetabular blood supply, maintenance of the hip abductor musculature, and the ability to effect powerful deformity correction about an ideal center of rotation. There is an increasing body of evidence that preservation of the native hip can be improved through pelvic osteotomy. In contrast to hip osteotomy and joint preservation, the role of total hip arthroplasty in young, active patients with correctable hip deformity remains controversial. Moreover, the durability of hip replacement in young patients is inherently limited. Pelvic osteotomy should be considered the preferred method to address correctable structural deformity of the hip in the young, active patient with developmental dysplasia. The Bernese PAO is technically demanding, yet offers reproducible results with good long-term survivorship in carefully selected patients with preserved cartilage and the ability to meet the demands of rehabilitation. PMID:27190755

  7. Bernese periacetabular osteotomy for hip dysplasia: Surgical technique and indications.

    PubMed

    Kamath, Atul F

    2016-05-18

    For young, active patients with healthy hip cartilage, pelvic osteotomy is a surgical option in to address hip pain and to improve mechanical loading conditions related to dysplasia. Hip dysplasia may lead to arthrosis at an early age due to poor coverage of the femoral head and abnormal loading of the joint articulation. In patients with symptomatic dysplasia and closed triradiate cartilage (generally over age 10), including adolescents and young adults (generally up to around age 40), the Bernese periacetabular osteotomy (PAO) is a durable technique for addressing underlying structural deformity. The PAO involves a modified Smith-Petersen approach. Advantages of the Bernese osteotomy include preservation of the weight-bearing posterior column of the hemi-pelvis, preservation of the acetabular blood supply, maintenance of the hip abductor musculature, and the ability to effect powerful deformity correction about an ideal center of rotation. There is an increasing body of evidence that preservation of the native hip can be improved through pelvic osteotomy. In contrast to hip osteotomy and joint preservation, the role of total hip arthroplasty in young, active patients with correctable hip deformity remains controversial. Moreover, the durability of hip replacement in young patients is inherently limited. Pelvic osteotomy should be considered the preferred method to address correctable structural deformity of the hip in the young, active patient with developmental dysplasia. The Bernese PAO is technically demanding, yet offers reproducible results with good long-term survivorship in carefully selected patients with preserved cartilage and the ability to meet the demands of rehabilitation. PMID:27190755

  8. Paradigm Shift in the Surveillance and Management of Dysplasia in Inflammatory Bowel Disease (West).

    PubMed

    Soetikno, Roy; Kaltenbach, Tonya; McQuaid, Kenneth R; Subramanian, Venkataraman; Kumar, Rahul; Barkun, Alan N; Laine, Loren

    2016-04-01

    Patients with long-standing inflammatory bowel disease (IBD) colitis have a 2.4-fold higher risk of developing colorectal cancer (CRC) than the general population, for both ulcerative colitis (UC) and Crohn's disease (CD) colitis. Surveillance colonoscopy is recommended to detect early CRC and dysplasia. Most dysplasia discovered in patients with IBD is actually visible. Recently published SCENIC (Surveillance for Colorectal Endoscopic Neoplasia Detection and Management in Inflammatory Bowel Disease Patients: International Consensus Recommendations) consensus statements provide unifying recommendations for the optimal surveillance and management of dysplasia in IBD. SCENIC followed the prescribed processes for guideline development from the Institute of Medicine (USA), including systematic reviews, full synthesis of evidence and deliberations by panelists, and incorporation of the GRADE methodology. The new surveillance paradigm involves high-quality visual inspection of the mucosa, using chromoendoscopy and high-definition colonoscopy, with endoscopic recognition of colorectal dysplasia. Lesions are described according to a new classification, which replaces the term 'dysplasia associated lesion or mass (DALM)' and its derivatives. Targeted biopsies are subsequently done on areas suspicious for dysplasia, and resections are carried out for discrete, resectable lesions. PMID:26866420

  9. Oculomotor-corpus callosum dysplasia.

    PubMed

    Acers, T E; Blackwell, C

    1982-01-01

    An infant with congenital bilateral ophthalmoplegia with levator and pupillary sparing is presented. The eyes are fixed in a divergent position with no apparent motility. The baby is otherwise clinically normal and is developing in a normal fashion except for delayed growth pattern. Visual attention is present and he fixates with either eye. Computed tomography demonstrates an associated dysplasia of the corpus callosum and an abnormal ventricular system. Neuroendocrine studies performed at one year of age demonstrate subnormal levels of growth hormone. It is postulated that this represents an embryodysgenesis involving the developing mesencephalic tegmentum (oculomotor nuclei) and the diencephalic lamina reuniens (corpus callosum). It is the first reported case of congenital ophthalmoplegia with corpus callosum dysplasia. The "embryodysgenic" relationship with other forebrain-ocular anomalies has been alluded to and remains speculative. PMID:7182958

  10. [Bronchopulmonary dysplasia: definitions and classifications].

    PubMed

    Sánchez Luna, M; Moreno Hernando, J; Botet Mussons, F; Fernández Lorenzo, J R; Herranz Carrillo, G; Rite Gracia, S; Salguero García, E; Echaniz Urcelay, I

    2013-10-01

    Bronchopulmonary dysplasia is the most common sequelae related to very low birth weight infants, mostly with those of extremely low birth weight. Even with advances in prevention and treatment of respiratory distress syndrome associated with prematurity, there is still no decrease in the incidence in this population, although a change in its clinical expression and severity has been observed. There are, however, differences in its frequency between health centres, probably due to a non-homogeneously used clinical definition. In this article, the Committee of Standards of the Spanish Society of Neonatology wishes to review the current diagnosis criteria of bronchopulmonary dysplasia to reduce, as much as possible, these inter-centre differences. PMID:23582451

  11. [Yunis-Varon syndrome: a case report].

    PubMed

    Elizondo-Dueñaz, Ricardo; Rivera-Silva, Gerardo; Marcos Abdala, Hernán; López-Altamirano, Marcelo; Martínez-Menchaca, Héctor R

    2012-01-01

    In 1980, Yunis-Varon described this disease. Yunis-Varon syndrome is a rare autosomal recessive disease. This cleidocranial dysplasia is characterized by bone and tooth disorders, in addition tends to affect the cardiovascular system and tissues from ectoderm. This report describes the radiologic image of a patient with Yunis-Varon syndrome. PMID:22367312

  12. Low-Grade Dysplasia in Ulcerative Colitis: Risk Factors for Developing High-Grade Dysplasia or Colorectal Cancer

    PubMed Central

    Choi, Chang-ho Ryan; Ignjatovic-Wilson, Ana; Askari, Alan; Lee, Gui Han; Warusavitarne, Janindra; Moorghen, Morgan; Thomas-Gibson, Siwan; Saunders, Brian P; Rutter, Matthew D; Graham, Trevor A; Hart, Ailsa L

    2015-01-01

    OBJECTIVES: The aim of this study was to identify risk factors associated with development of high-grade dysplasia (HGD) or colorectal cancer (CRC) in ulcerative colitis (UC) patients diagnosed with low-grade dysplasia (LGD). METHODS: Patients with histologically confirmed extensive UC, who were diagnosed with LGD between 1993 and 2012 at St Mark's Hospital, were identified and followed up to 1 July 2013. Demographic, endoscopic, and histological data were collected and correlated with the development of HGD or CRC. RESULTS: A total of 172 patients were followed for a median of 48 months from the date of initial LGD diagnosis (interquartile range (IQR), 15–87 months). Overall, 33 patients developed HGD or CRC (19.1% of study population; 20 CRCs) during study period. Multivariate Cox proportional hazard analysis revealed that macroscopically non-polypoid (hazard ratio (HR), 8.6; 95% confidence interval (CI), 3.0–24.8; P<0.001) or invisible (HR, 4.1; 95% CI, 1.3–13.4; P=0.02) dysplasia, dysplastic lesions ≥1 cm in size (HR, 3.8; 95% CI, 1.5–13.4; P=0.01), and a previous history of “indefinite for dysplasia” (HR, 2.8; 95% CI, 1.2–6.5; P=0.01) were significant contributory factors for HGD or CRC development. Multifocal dysplasia (HR, 3.9; 95% CI, 1.9–7.8; P<0.001), metachronous dysplasia (HR, 3.5; 95% CI, 1.6–7.5; P=0.001), or a colonic stricture (HR, 7.4; 95% CI, 2.5–22.1; P<0.001) showed only univariate correlation to development of HGD or CRC. CONCLUSIONS: Lesions that are non-polypoid or endoscopically invisible, large (≥1 cm), or preceded by indefinite dysplasia are independent risk factors for developing HGD or CRC in UC patients diagnosed with LGD. PMID:26416190

  13. Neonatal Incidence of Hip Dysplasia

    PubMed Central

    Peled, Eli; Eidelman, Mark; Katzman, Alexander

    2008-01-01

    The advantages of sonographic examination are well known, but its main disadvantage is that it might lead to overdiagnosis, which might cause overtreatment. Variations in the incidence of developmental dysplasia of the hip are well known. We ascertained the incidence of neonatal sonographic developmental dysplasia of the hip without considering the development of those joints during followup. All 45,497 neonates (90,994 hips) born in our institute between January 1992 and December 2001 were examined clinically and sonographically during the first 48 hours of life. Sonography was performed according to Graf’s method, which considers mild hip sonographic abnormalities as Type IIa. We evaluated the different severity type incidence pattern and its influence on the total incidence during and between the investigated years. According to our study, sonographic Type IIa has major effects on the incidence of overall developmental dysplasia of the hip with a correlation coefficient of 0.95, whereas more severe sonographic abnormalities show relatively stable incidence patterns. Level of Evidence: Level I, prognostic study. See the Guidelines for Authors for a complete description of levels of evidence. PMID:18288551

  14. Thanatophoric Dysplasia: A Case Report

    PubMed Central

    Jyoti; Jain, Rekha; Devendra

    2015-01-01

    Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat vertebral bodies) and macrocephaly. TD is divided into two clinically defined subtypes: type I and II with some clinical overlap between the two subtypes. They can be differentiated by the skull shape and femur morphology. Ultrasound examination in the second trimester is often straight forward in diagnosing the congenital anomaly. We report a case of pre term fresh stillborn baby with dysmorphic facies, macrocephaly, micromelia with short stubby fingers and deep skin creases, narrow thorax and protuberant abdomen which delivered at our hospital. The ultrasound examination showed shortening of long bones with femur shaped like telephone receiver. Dysmorphic facial features and skeletal abnormalities in the baby lead us to make the diagnosis of TD type I. Because of the rarity of this condition we report this case of thanatophoric dysplasia with a short review of literature. PMID:26675119

  15. Hip Dysplasia in the Young Adult.

    PubMed

    Gala, Luca; Clohisy, John C; Beaulé, Paul E

    2016-01-01

    Hip dysplasia is a leading precursor of osteoarthritis and is seen in 20% to 40% of patients with osteoarthritis of the hip. An increase in mechanical stress on the cartilage matrix with failure of the acetabular labrum represents the major pathomechanism of degeneration. Because the prevalence of associated femoral deformities is high (>50%), the structural anatomy of the dysplastic hip must be assessed in multiple planes using radiographs and, if needed, advanced imaging modalities. Acetabular osteotomy (periacetabular and/or rotational) is the most commonly used procedure for the treatment of the majority of dysplastic hips in adults. Modern total hip replacement remains an excellent option for the more arthritic joints. Difficulties can arise from anatomical abnormalities and previous operations. PMID:26738905

  16. Guidelines for genetic skeletal dysplasias for pediatricians

    PubMed Central

    Cho, Sung Yoon

    2015-01-01

    Skeletal dysplasia (SD) is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to be seen by a pediatrician or orthopedic surgeon are those who present with short stature in childhood. Because each category has so many diseases, classification is important to understand SD better. In order to diagnose a SD accurately, clinical and radiographic findings should be evaluated in detail. In addition, genetic diagnosis of SD is important because there are so various SDs with complex phenotypes. To reach an exact diagnosis of SDs, cooperative approach by a clinician, a radiologist and a geneticist is important. This review aims to provide an outline of the diagnostic approach for children with disproportional short stature. PMID:26817005

  17. Guidelines for genetic skeletal dysplasias for pediatricians.

    PubMed

    Cho, Sung Yoon; Jin, Dong-Kyu

    2015-12-01

    Skeletal dysplasia (SD) is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to be seen by a pediatrician or orthopedic surgeon are those who present with short stature in childhood. Because each category has so many diseases, classification is important to understand SD better. In order to diagnose a SD accurately, clinical and radiographic findings should be evaluated in detail. In addition, genetic diagnosis of SD is important because there are so various SDs with complex phenotypes. To reach an exact diagnosis of SDs, cooperative approach by a clinician, a radiologist and a geneticist is important. This review aims to provide an outline of the diagnostic approach for children with disproportional short stature. PMID:26817005

  18. Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

    PubMed

    Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

    2012-01-01

    The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes. PMID:22759387

  19. Low risk of adenocarcinoma and high-grade dysplasia in patients with non-dysplastic Barrett’s esophagus: Results from a cohort from a country with low esophageal adenocarcinoma incidence

    PubMed Central

    Chaves, Paula

    2015-01-01

    Background The risk of esophageal adenocarcinoma (EAC) in non-dysplastic Barrett’s esophagus (NDBE) is considered to be approximately 0.3% per year or even lower, according to population-based studies. Data from countries with low EAC incidence are scarce. Our principal aim was to determine the incidence of high-grade dysplasia (HGD) and EAC in NDBE. Our secondary aims were to identify the predictors of progression and to calculate the incidence of HGD/EAC, by using the calculation method for surveillance time in population-based studies. Materials and methods A cohort of NDBE patients was prospectively followed up. Cases of HGD and EAC (study end points) diagnosed during the first year of follow-up were considered as prevalent. Only cases with an endoscopic surveillance time > 1 year were included in our analysis. Results We enrolled 331 patients (251 men) in the surveillance program. Their median age was 59 years (interquartile range (IQR): 47–67 years). Their median NDBE length was 3 cm (IQR: 2–4 cm). Of these patients, 80 died during the follow-up (one from EAC) and two were lost to follow-up. After 2284 patient-years of endoscopic follow-up (median surveillance time, 5 years (IQR: 2–10 years)), we found that five cases of HGD and two cases of EAC were diagnosed. The incidence of HGD/EAC was 3.1 cases per 1000 patient-years (95% CI: 1.3–6.0) and that of EAC was 0.9 (95% CI: 0.2–2.9). The incidence of HGD/EAC in short segments (≤ 3 cm) was 0.7 cases per 1000 patient-years (95% CI: 0.3–3.4). The sole variable that we found associated with progression was NDBE length. If the total surveillance time was considered (3537 patient-years), the incidence of HGD and EAC was only slight lower. Conclusions The incidence of HGD and EAC was very low in NDBE. Therefore, current surveillance guidelines must be reassessed, at least for short-segment BE. PMID:27403300

  20. Ultrasound for Infants at Risk for Developmental Dysplasia of the Hip.

    PubMed

    LeBa, Thu-Ba; Carmichael, Kelly D; Patton, Andrew G; Morris, Randal P; Swischuk, Leonard E

    2015-08-01

    The best screening method for developmental dysplasia of the hip is controversial. Ultrasonography is sensitive, but cost-effectiveness may limit its use. This study assessed whether ultrasound screening would increase in effectiveness if targeted toward infants with established risk factors for developmental dysplasia of the hip and normal findings on physical examination. All ultrasound scans performed at the authors' institution from January 2007 through January 2011 to screen for developmental dysplasia of the hip were reviewed. Infants with risk factors for developmental dysplasia of the hip and normal findings on physical examination by orthopedic faculty or a pediatrician were selected. Of the 530 cases that were reviewed, 217 had risk factors for developmental dysplasia of the hip and normal findings on physical examination. Mean age of the 217 selected patients was 6.9 weeks. Of the patients, 83% were female, 77% had breech presentation, 30% were firstborn children, 13% had intrauterine packaging abnormalities, and 3% had a family history of developmental dysplasia of the hip. Of the 217 infants, 44 had 1 risk factor, 121 had 2 risk factors, 46 had 3 risk factors, and 6 had 4 risk factors. Dynamic ultrasound evaluation showed instability in 17 patients, for a 7.8% incidence of developmental dysplasia of the hip. All 17 patients were treated with a Pavlik harness. The results suggested that selective ultrasound screening may be effective in infants with risk factors and normal findings on physical examination. Selective ultrasound screening changed treatment management in almost 8% of patients and clinical follow-up in 6.5%. Analysis of the cost-effectiveness of screening is needed. PMID:26270760

  1. Focal cortical dysplasias in autism spectrum disorders

    PubMed Central

    2013-01-01

    Background Previous reports indicate the presence of histological abnormalities in the brains of individuals with autism spectrum disorders (ASD) suggestive of a dysplastic process. In this study we identified areas of abnormal cortical thinning within the cerebral cortex of ASD individuals and examined the same for neuronal morphometric abnormalities by using computerized image analysis. Results The study analyzed celloidin-embedded and Nissl-stained serial full coronal brain sections of 7 autistic (ADI-R diagnosed) and 7 age/sex-matched neurotypicals. Sections were scanned and manually segmented before implementing an algorithm using Laplace’s equation to measure cortical width. Identified areas were then subjected to analysis for neuronal morphometry. Results of our study indicate the presence within our ASD population of circumscribed foci of diminished cortical width that varied among affected individuals both in terms of location and overall size with the frontal lobes being particularly involved. Spatial statistic indicated a reduction in size of neurons within affected areas. Granulometry confirmed the presence of smaller pyramidal cells and suggested a concomitant reduction in the total number of interneurons. Conclusions The neuropathology is consistent with a diagnosis of focal cortical dysplasia (FCD). Results from the medical literature (e.g., heterotopias) and our own study suggest that the genesis of this cortical malformation seemingly resides in the heterochronic divisions of periventricular germinal cells. The end result is that during corticogenesis radially migrating neuroblasts (future pyramidal cells) are desynchronized in their development from those that follow a tangential route (interneurons). The possible presence of a pathological mechanism in common among different conditions expressing an autism-like phenotype argue in favor of considering ASD a “sequence” rather than a syndrome. Focal cortical dysplasias in ASD may serve to

  2. Dental Anomalies Associated with Craniometaphyseal Dysplasia.

    PubMed

    Chen, I-P; Tadinada, A; Dutra, E H; Utreja, A; Uribe, F; Reichenberger, E J

    2014-06-01

    Craniometaphyseal dysplasia (CMD) is a rare genetic disorder encompassing hyperostosis of craniofacial bones and metaphyseal widening of tubular bones. Dental abnormalities are features of CMD that have been little discussed in the literature. We performed dentofacial examination of patients with CMD and evaluated consequences of orthodontic movement in a mouse model carrying a CMD knock-in (KI) mutation (Phe377del) in the Ank gene. All patients have a history of delayed eruption of permanent teeth. Analysis of data obtained by cone-beam computed tomography showed significant bucco-lingual expansion of jawbones, more pronounced in mandibles than in maxillae. There was no measurable increase in bone density compared with that in unaffected individuals. Orthodontic cephalometric analysis showed that patients with CMD tend to have a short anterior cranial base, short upper facial height, and short maxillary length. Microcomputed tomography (micro-CT) analysis in homozygous Ank (KI/KI) mice, a model for CMD, showed that molars can be moved by orthodontic force without ankylosis, however, at a slower rate compared with those in wild-type Ank (+/+) mice (p < .05). Histological analysis of molars in Ank (KI/KI) mice revealed decreased numbers of TRAP(+) osteoclasts on the bone surface of pressure sides. Based on these findings, recommendations for the dental treatment of patients with CMD are provided. PMID:24663682

  3. Dental Anomalies Associated with Craniometaphyseal Dysplasia

    PubMed Central

    Chen, I.-P.; Tadinada, A.; Dutra, E.H.; Utreja, A.; Uribe, F.; Reichenberger, E.J.

    2014-01-01

    Craniometaphyseal dysplasia (CMD) is a rare genetic disorder encompassing hyperostosis of craniofacial bones and metaphyseal widening of tubular bones. Dental abnormalities are features of CMD that have been little discussed in the literature. We performed dentofacial examination of patients with CMD and evaluated consequences of orthodontic movement in a mouse model carrying a CMD knock-in (KI) mutation (Phe377del) in the Ank gene. All patients have a history of delayed eruption of permanent teeth. Analysis of data obtained by cone-beam computed tomography showed significant bucco-lingual expansion of jawbones, more pronounced in mandibles than in maxillae. There was no measurable increase in bone density compared with that in unaffected individuals. Orthodontic cephalometric analysis showed that patients with CMD tend to have a short anterior cranial base, short upper facial height, and short maxillary length. Microcomputed tomography (micro-CT) analysis in homozygous AnkKI/KI mice, a model for CMD, showed that molars can be moved by orthodontic force without ankylosis, however, at a slower rate compared with those in wild-type Ank+/+ mice (p < .05). Histological analysis of molars in AnkKI/KI mice revealed decreased numbers of TRAP+ osteoclasts on the bone surface of pressure sides. Based on these findings, recommendations for the dental treatment of patients with CMD are provided. PMID:24663682

  4. Schimke immune-osseous dysplasia: A case report.

    PubMed

    Bakr, Ashraf; Eid, Riham; Sarhan, Amr; Hammad, Ayman; El-Refaey, Ahmed Mahmoud; El-Mougy, Atef; Zedan, Mohammed Magdy; ElHusseini, Fatma

    2015-09-01

    Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondylo-epiphyseal dysplasia (SED), progressive renal insufficiency beginning as steroid-resistant nephrotic syndrome (SRNS) and defective cellular immunity. This article reports a case from Egypt with a mild form of SIOD. A 14.5-year-old male patient presented with disproportionate short stature, SRNS (focal and segmental glomerulosclerosis), laboratory evidence of cellular immune deficiency and radiologic characteristics of SED. He died at the age of 16.5 years with bone marrow failure and severe pneumonia. To the best of our knowledge, this is the first case of SIOD to be reported from Egypt. PMID:26354575

  5. Pathogenesis of bronchopulmonary dysplasia: when inflammation meets organ development.

    PubMed

    Shahzad, Tayyab; Radajewski, Sarah; Chao, Cho-Ming; Bellusci, Saverio; Ehrhardt, Harald

    2016-12-01

    Bronchopulmonary dysplasia is a chronic lung disease of preterm infants. It is caused by the disturbance of physiologic lung development mainly in the saccular stage with lifelong restrictions of pulmonary function and an increased risk of abnormal somatic and psychomotor development. The contributors to this disease's entity are multifactorial with pre- and postnatal origin. Central to the pathogenesis of bronchopulmonary is the induction of a massive pulmonary inflammatory response due to mechanical ventilation and oxygen toxicity. The extent of the pro-inflammatory reaction and the disturbance of further alveolar growth and vasculogenesis vary largely and can be modified by prenatal infections, antenatal steroids, and surfactant application.This minireview summarizes the important recent research findings on the pulmonary inflammatory reaction obtained in patient cohorts and in experimental models. Unfortunately, recent changes in clinical practice based on these findings had only limited impact on the incidence of bronchopulmonary dysplasia. PMID:27357257

  6. Craniometadiaphyseal dysplasia, wormian bone type.

    PubMed

    Santolaya, J M; Hall, C M; García-Miñaur, S; Delgado, A

    1998-05-18

    We report on a 4-year-old boy with craniometadiaphyseal dysplasia (CMDD), wormian bone type. Component manifestations include a large head with prominent forehead, skull changes showing multiple wormian bones, wide long tubular bones without the usual metaphyseal flare, wide and short tubular bones without the normal diaphyseal constriction, and wide ribs and clavicles. In addition to these findings, the propositus, his brother, his father, and a paternal aunt all have parietal protuberances, which seem not related to CMDD. Parental consanguineity supports the autosomal recessive transmission of the condition. PMID:9605592

  7. Developmental dysplasia of the hip: diagnosis and management to 18 months.

    PubMed

    Clarke, Nicholas M P

    2014-01-01

    Developmental dysplasia of the hip represents a spectrum of disease ranging from transient neonatal instability to established dislocation. It is accepted that female sex, breech presentation, and family history are risk factors for the disease. Early diagnosis by clinical examination or ultrasound imaging is emphasized, with splint treatment ideally commencing by 6 weeks of age. Treatment using the Pavlik harness is successful in up to 90% of patients. Ultrasound imaging is the gold standard for monitoring a patient during harness wear. Failed splintage or late presentation usually necessitates surgical intervention depending on the patient's age and the severity of the hip dysplasia and displacement. PMID:24720316

  8. Hip Arthroscopy in the Presence of Acetabular Dysplasia

    PubMed Central

    Jayasekera, Narlaka; Aprato, Alessandro; Villar, Richard N

    2015-01-01

    Purpose : Hip arthroscopy is a well established therapeutic intervention for an increasing number of painful hip conditions. Developmental dysplasia of the hip (DDH) is commonly associated with intra-articular hip pathology. However, some surgeons perceive patients with hip dysplasia as poor candidates for hip arthroscopy. Our aim was to describe early outcomes of arthroscopic treatment for patients with DDH, who also had femoroacetabular impingement (FAI) treated when necessary, and to compare these outcomes against a control group of patients without DDH. Methods : Prospective case-control study of 68 consecutive hip arthroscopy patients assessed with a modified Harris Hip Score (mHHS) preoperatively and at six weeks, six months, and one year after surgery. Presence of DDH was determined using a standard anteroposterior (AP) pelvic radiograph to measure the centre-edge angle (CEA) of Wiberg, with a CEA < 20º used as threshold for diagnosis of DDH. Results : 12 patients (eight female and four male) with acetabular dysplasia and mean CEA of 15.4º (9º to 19º). The control, nondysplastic group comprised 54 patients (23 females and 31 males) with a mean CEA of 33.1º (22º to 45º). All patients in the dysplastic group had a labral tear and 11 (91.7%) had associated femoral cam impingement lesion addressed at arthroscopy. Our study demonstrates a significant (p=0.02) improvement in outcome in the dysplastic group at one year using the mHHS. Conclusion : Hip arthroscopy in the presence of DDH is effective in relieving pain for at least one year after surgery although does not address underlying acetabular abnormality. PMID:26069512

  9. DYSPLASIA OF HIP DEVELOPMENT: UPDATE

    PubMed Central

    Guarniero, Roberto

    2015-01-01

    The term “developmental dysplasia of the hip” (DDH) includes a wide spectrum of abnormalities that affect the hip during its growth, ranging from dysplasia to joint dislocation and going through different degrees of coxofemoral subluxation. The incidence of DDH is variable, and depends on a number of factors, including geographical location. Approximately one in 1,000 newborn infants may present hip dislocation and around 10 in 1,000 present hip instability. Brazil has an incidence of five per 1,000 in terms of findings of a positive Ortolani sign, which is the early clinical sign for detecting the disorder. The risk factors for DDH include: female sex, white skin color, primiparity, young mother, breech presentation at birth, family history, oligohydramnios, newborns with greater weight and height, and deformities of the feet or spine. Hip examinations should be routine for newborns, and should be emphasized in maternity units. Among newborns and infants, the diagnosis of DDH is preeminently clinical and is made using the Ortolani and Barlow maneuvers. Conventional radiography is of limited value for confirming the diagnosis of DDH among newborns, and ultrasound of the hip is the ideal examination. The treatment of DDH is challenging, both for pediatric orthopedists and for general practitioners. The objectives of the treatment include diagnosis as early as possible, joint reduction and stabilization of the hip in a secure position. Classically, treatment options are divided according to different age groups, at the time of diagnosis. PMID:27022528

  10. Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

    PubMed

    Dias, Cristina; Cairns, Robyn; Patel, Millan S

    2009-01-01

    The spondylo-meta-epiphyseal dysplasias are an expanding group of skeletal dysplasias with specific features differentiating each subtype. We review the precocious carpal mineralization, unique metacarpal shape, triangular distal phalanges and mushroom cloud-shaped proximal phalanges present at an early age in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type (SMED SL-AC) and report two patients with clinical and radiographic features consistent with SMED SL-AC, who died suddenly because of spinal cord compression. The patients presented are female siblings, providing further evidence for autosomal recessive inheritance. Cervical cord compression is found in half of reported patients and is the major cause of mortality. SMED SL-AC should be added to the list of genetic causes of sudden death. Radiological features in the hand may be used in the first few years of life to support an early diagnosis and thus allow for prevention of premature demise. PMID:19050401