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Weisfelt Martijn - - 2006
Skeletal dysplasias form a diverse and genetically heterogeneous group of disorders, but also share many clinical and radiographic features. We describe two illustrative cases and provide a short review of the literature on the neurological complications associated with various groups of skeletal dysplasias. These two cases illustrate that management of ...
Kaissi, Ali Al
Kyphoscoliosis is a complication of some bone dysplasias, including Cleido-cranial dysplasia (CCD). We report on massive spinal dysplasia secondary to severe spinal dyssygmentation associated with marked defective ossification of the ischium, detected in a Tunisian female child with a severe form of Cleido-cranial dysplasia. Literature review on Cleido cranial dysplasia ...
Smith Lee P - - 2006
In this case report we describe a patient with agenesis of the corpus callosum and asymmetric bilateral sensorineural hearing loss, who was found to have a bilateral inner ear dysplasia. Both of these anomalies have been associated with different members of the Pax gene family. However, to our knowledge this ...
Mangala M - - 2006
Only three Indian patients of florid cemento-osseous dysplasia have been reported (less than 2%), according to the review of recent literature (2003). This makes the occurrence of FCOD a relatively rare phenomenon. The age group may vary from 19-76 years and typically presents in the fourth and fifth decade. In ...
Steiner German C - - 2006
The ultrastructure of low-grade intraosseous osteosarcoma (LGOS) is not well documented in the literature. Four cases of LGOS are described with an emphasis on its distinguishing characteristics as well those it shares with other lesions. The predominant cells of LGOS are fibroblasts with well-developed rough endoplasmic reticulum and mild focal ...
Ozcan Emel - - 2006
Although tonsilloliths are reported to be fairly common, florid cases casting distinct radiopaque shadows on panoramic radiographs are not often reported. This report illustrates such a case as an incidental finding in an asymptomatic 38-year-old female dental patient. Panoramic radiography revealed distinct radiopaque shadows over the ascending rami of the ...
Bradley Kyle T - - 2006
Significant intra- and interobserver variability exists in diagnosing and grading oral epithelial dysplasia. Mutations in the tumor-suppressor gene p16 are common in oral cavity dysplastic lesions, but whether immunohistochemical detection of the gene product p16(INK4a) (p16) can be used as a reliable biomarker for dysplasia is unclear. In total, 119 ...
Nural Mehmet Selim - - 2006
Spondylometaphyseal dysplasia is a type of bone dysplasia characterized by vertebral and metaphyseal changes of varying severity. Diagnosis of the disease is difficult because the severity of bone involvement differs and symptoms change according to the age of the patient. In this study, radiographic findings of a 16 month-old male ...
Banks Kevin P - - 2007
While well-recognized in the orthopedic literature as a cause of chronic hip pain, acetabular retroversion has not been specifically described in the radiologic literature. Acetabular retroversion represents a particular form of hip dysplasia characterized by abnormal posterolateral orientation of the acetabulum. This pathophysiology predisposes the individual to subsequent anterior impingement ...
Hamadani Mehdi - - 2006
Fibrous dysplasia protuberans refers to a benign fibro-osseous exophytic mass originating in the intra-medullary cavity of an adjacent bone. A case of fibrous dysplasia protuberans is hereby presented, manifesting as an exudative pleural effusion in a 49 years old male with history of McCune-Albright syndrome. This case represents the first ...
Hatori Masahito - - 2006
Adamantinoma is known as a low-grade malignant biphasic tumor. Classic adamantinoma is in general characterized by admixture of both epithelial and osteofibrous components that are associated with various proportions and differentiation patterns. Osteofibrous dysplasia (OFD) is a self-limited benign fibro-osseous lesion of bone during infancy and childhood. OFD-like adamantinoma is ...
Feller Liviu - - 2006
This article reports on a case presenting with a rare syndrome characterized by enamel dysplasia and multiple unerupted teeth with large solid fibrous pericoronal lesions manifesting with odontogenic fibroma-like features. Our case shows in addition to these findings an anterior open bite malocclusion and gingival overgrowths. These overgrowths exhibit the ...
Melton Joel T K - - 2006
Benign mesenchymoma is a rare type of germ cell tumour. An extensive literature search revealed only one described case of mediastinal mesenchymoma in Europe and three cases in Asia. We describe our recent experience of a mediastinal mesenchymoma and present the fascinating imaging and operative findings. The preoperative diagnosis of ...
Dusabe Jean-Paul - - 2006
Focal fibrocartilaginous dysplasia of the tibia (FFCD) is a rare and benign condition associated with unilateral tibia vara in childhood. The first description was done by Bell in 1985. Since then more than sixty cases have been reported. The aetiology remains unknown. Five new cases are retrospectively reported. Four of ...
Goldstein Neal S - - 2006
Eight sessile serrated adenoma (SSA), right colon polypectomies with focal invasive adenocarcinoma or high-grade dysplasia were studied to identify features indicating a high risk of transformation and characterize the morphologic features of serrated dysplasia; 6 cases had invasive adenocarcinoma; 2 were high-grade dysplasia. All 8 were microsatellite unstable-high and had ...
Maly Alexander - - 2006
Proliferating invaginations of the sinonasal epithelium, simulating inverted papillomas, have been mentioned once in the literature as a reactive phenomenon overlying sinonasal fibrosarcomas. These proliferations may be so marked as to make the distinction from inverted papilloma virtually impossible. The possible result is that the examining pathologist's attention might be ...
Anghelina F - - 2006
OBJECTIVE: We investigated the proliferative activities in premalignant laryngeal vocal chord lesions treated by epithelial stripping in microlaryngoscopy, using immunohistochemical staining with anti-p53, anti-PCNA and anti-Ki-67 monoclonal antibody and we correlated with clinic and morphologic aspects. MATERIAL AND METHODS: The study was made on 32 patients hospitalized in Craiova ENT ...
Gomes M F - - 2005
Cherubism is a rare hereditary fibro-osseous childhood disease characterized by bone degradation and fibrous tissue replacement at the angles of the mandible and at the tuberosity areas of the maxilla that leads to prominence of the lower face and an appearance reminiscent of the cherub's portrayal in Renaissance art. This ...
Wiesmiller Kerstin - - 2005
We would like to present the rare case of a now 37-year old female patient with autosomal-recessively inherited anhidrotic ectodermal dysplasia being treated in our ENT department for atrophic rhinitis. The clinical appearance very much resembled the picture of an "empty nose" with distinct hypoplasia of the turbinates and extensively ...
Rim Priscila Hae Hyun - - 2005
This paper reports on a 36-year-old woman with GAPO syndrome, a rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). Her parents are consanguineous and one of her sisters is also affected. Since the first description by Anderson and Pindborg in 1947, ...
Yang C-H - - 2005
A 34-year-old woman presented with 2-year history of a dome-shaped papule on a well-circumscribed, thickened, port-wine stain on the left side of the chin. Squeezing on the port-wine-stain plaque revealed many comedos within dilated follicular orifices. The papule was excised and submitted for histological examination. Histopathological study showed a lobular ...
Ali Al Kaissi, Farid ...
Kyphoscoliosis is a complication of some bone dysplasias, including Cleido-cranial dysplasia (CCD). We report on massive spinal dysplasia secondary to severe spinal dyssygmentation associated with marked defective ossification of the ischium, detected in a Tunisian female child with a severe form of Cleido-cranial dysplasia. Literature review on Cleido cranial dysplasia ...
Mac-Thiong Jean-Marc - - 2005
STUDY DESIGN: A 7-year-old ambulatory girl with complete bilateral agenesis of the ilium is reported. OBJECTIVE: To document the clinical evolution and the spino-pelvic balance of a girl with bilateral agenesis of the ilium. SUMMARY OF BACKGROUND DATA: Scapuloiliac dysostosis is a rare focal skeletal dysplasia consisting in hypoplasia of ...
Vasudevan Pradeep C - - 2005
Microcephaly-lymphoedema-chorioretinal dysplasia (MIM 152950) has been described as a distinct clinical entity. The mode of inheritance is uncertain, but male to male transmission has been observed supporting autosomal dominant inheritance. A characteristic facial phenotype has recently been suggested. We report three isolated male patients with this condition who have all ...
Hasselblatt Martin - - 2005
Juvenile psammomatoid ossifying fibroma (JPOF) is a benign fibroosseous lesion predominantly arising within the paranasal sinuses in children and young adults. Neurocranial occurrence is exceedingly rare and a location within the neurocranial portion of the temporal bone has not been described. The authors report on one case of sinonasal JPOF ...
Kaya Arzu - - 2005
The aim of this case report is to describe unusual cases of progressive pseudorheumatoid dysplasia (PPD) affecting the axial skeleton and peripheral joints and to stress the importance of examining the entire skeleton for definite diagnosis and the importance of rehabilitation interventions. PPD is a rare familial disease characterized by ...
Cantù Rajnoldi A - - 2005
In the absence of genetic abnormalities, the diagnoses of myelodysplastic syndromes (MDS) is primarily based on the presence of dysplasia in blood and marrow cells. Currently, there is no standardized approach to evaluate dysplasia. International cooperative study groups like the European Working Group on MDS in Childhood (EWOG-MDS) depend, however, ...
Canci Alessandro - - 2005
This paper reports on a case of massive hyperostotic alterations observed in the skeleton of an adult woman from the necropolis of Montescaglioso Belvedere (Basilicata, Southern Italy) attributed to the Enotrian culture and dated to the 6th century BC. Hyperostotic changes involve joints, the vertebral column, and the lower limbs. ...
Harpf C - - 2005
An oligodactylous variant of Cenani-Lenz syndactyly and its surgical treatment is presented. The deformity is believed to be of autosomal recessive inheritance and caused by a disordered axial and longitudinal differentiation of the upper and lower extremities. The classical form is mainly characterised by a complete syndactyly of the hands. ...
Kalteis Thomas - - 2005
Mucopolysaccharidosis type IV A/B (Morquio's syndrome) is one of a heterogeneous group of lysosomal storage diseases characterized by accumulation of keratan sulfate in cells of connective tissue. From early childhood, the major orthopaedic manifestations are shortening of the trunk, spondylepiphyseal dysplasia, odontoid hypoplasia, upper cervical instability, lower-limb alignment problems, and ...
Simionescu Cristiana - - 2005
This study concerns 147 cases of limited endometrial hyperplasia, diagnosed at patients between IV, V, VI and VII decades of life. Histopathologically, the aspects were of basal hyperplasia--40 cases and polyp hyperplasia--107 cases. The polyp-like hyperplasia was present at pre and postmenopausal patients. At the premenopausal patients the polyps were ...
Filho A M - - 2005
We present a brief review of the rare condition of osteopetrosis together with two case reports of this disease in the same family affecting the jaws. The first in a 41-year-old woman, and the second in her 39-year-old brother. Plain films and computed tomography showed marked sclerosis of the affected ...
Rodrigues Rui G - - 2005
We describe the findings of anhidrotic/hypohidrotic ectodermal dysplasia in three successive generations of a family. All three women had variable alopecia, anhidrosis, hypodontia and malar hypoplasia. Chromosomal studies revealed a defect of the 2q12 region in all three patients. Previous studies have reported rare cases of autosomal dominant ectodermal dysplasia ...
Naki M M - - 2005
INTRODUCTION: Short rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia. It is characterized by short limb dwarfism, short ribs with thoracic hypoplasia, polydactyly, and multiple anomalies of major organs. CASE REPORT: We report a case of SRPD subtype II (Majewski) that was detected in the 36th week of ...
González López Blanca Silvia - - 2004
A family case of Cleidocranial Dysplasia is presented. A mother and two adolescent girls were examined. In all three cases, a radiological series was performed over the entire body. Generalized dysplasia in bones, prolonged retention of primary teeth, and delayed eruption of permanent, as well as supernumerary teeth was diagnosed. ...
DeBrule Michael B - - 2004
A case report about extensive osseous metaplasia of a plantar fibromatosis is presented. The authors are unaware of previous reports in the literature describing osseous metaplasia within plantar fibromatosis in this manner. This case shows that plantar fibromatosis may undergo osseous metaplasia in a fashion similar to fibromatous lesions elsewhere.
Aygun D - - 2004
Fibrous dysplasia of the cranial air sinuses is rarely reported in the literature. This is the first report of frontal lobe abscess (FLA) associated with fibrous dysplasia of the frontal sinus (FDFS). A 29-year-old female presented with seizures and acute confusion. Cranial computed tomography (CT) revealed fibrous dysplasia of the ...
Tochino Rie - - 2004
Fibrous dysplasia is an uncommon benign bone disorder of unknown origin. It rarely affects the temporal bone. We report a case of fibrous dysplasia of the temporal bone with cholesteatoma in the external auditory canal, the first complaint of which was left otorrhea. Fibrous dysplasia invaded the external ear canal, ...
Moura Enio - - 2004
This review presents the clinical, dermato-histopathological and genetic features of canine X-linked ectodermal dysplasia in previously reported cases and in three new spontaneous cases. The condition is compared with anhidrotic ectodermal dysplasia in humans and, based on current genetic concepts, we suggest that the two conditions are caused by the ...
Khalil Siddiq I - - 2004
Arrhythmogenic right ventricular dysplasia (ARVD) is underdiagnosed cardiomyopathy which commonly presents in young adults with ventricular tachycardia or sudden death. We report a case of ARVD presenting with features of acute coronary syndrome. The suspicion of ARVD came only when echocardiogram revealed abnormal shape and wall motion of right ventricle, ...
Fu Chen-Ju - - 2004
Monostotic fibrous dysplasia involving the spine is rare. There have been only 6 previous reports of monostotic fibrous dysplasia involving the thoracic spine and none had malignant transformation. We report a case of monostotic fibrous dysplasia of the thoracic spine with malignant transformation. Findings on plain radiographs, isotope bone scan, ...
Tonioli Matthew B - - 2004
A case report of a 49-year-old black woman with florid cemento-osseous dysplasia is presented. Endodontic treatment of a maxillary first molar and a general review of florid cemento-osseous dysplasia are presented. Treatment considerations including diagnosis, difficulty in radiographic interpretation, working length determination, and postoperative concerns are discussed.
Batra Vineeta Vijay - - 2004
Erythroleukemia is an uncommon disorder in children. Four cases of pediatric erythroleukemia, diagnosed over a period of nine years are presented. The patients presented with pallor, fever and hepatosplenomegaly of recent onset. Peripheral smear examination showed anemia, thrombocytopenia and circulating blasts. The bone marrow displayed erythroid hyperplasia with dysplasia and ...
Guill Carrie K - - 2004
Fibromuscular dysplasia is a rare nonatherosclerotic, noninflammatory angiopathy of uncertain etiology and high morbidity. Because of its propensity to affect medium-sized vessels in a variety of locations, presenting symptoms may vary substantially, resulting in a delayed or missed diagnosis. We describe a 57-year-old woman who, on multiple occasions, presented with ...
Gillespie L M LM Neonatal Unit, Royal Victoria Infirmary, Newcastle upon Tyne, - - 2004
Acinar dysplasia is a rare cause of death in the first few hours of life, due to an absence of alveoli. This report presents the first case associated with additional major renal malformations. The diagnosis of acinar dysplasia was unexpectedly made at autopsy. Even in the presence of antenatally diagnosed ...
Lao Christopher D - - 2004
BACKGROUND: Dysplasia in Barrett esophagus is a premalignant condition that is associated with an increased risk of developing esophageal adenocarcinoma. Unfortunately, clinical investigation aimed at prevention of progression to malignant disease has been hampered by the variable prevalence of dysplasia reported in the literature. The objective of the current study ...
Sridhar S - - 2004
Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities. The authors report a case of SRPS in a fresh stillborn baby who had these features along with dysplastic kidneys. Clinical and ...
Dieux-Coëslier Anne - - 2004
Three unrelated patients affected by a characteristic metaphyseal chondrodysplasia with cup-shaped metaphyses of the knees are described. Lower femoral and upper tibial cone-shaped epiphyses were embedded in the metaphyses. Main clinical features are short stature, shortening of the lower limbs, limitation of knee extension, and normal hands length. Radiographs of ...
Noël Georges - - 2004
Ollier's disease is a rare disease characterized by constitutional bone dysplasia with multiple enchondromas. The combination of haemangioma and chondromatoses is known as Maffucci's syndrome. Malignant degeneration of bone dysplasia into chondrosarcoma is a well-known complication, but a lesion of the base of the skull is exceptional. It is a ...
Rudzki Zbigniew - - 2004
Chronic myeloproliferative disorders (CMPD) are traditionally diagnosed using criteria based on clinical parameters. A framework for an alternative, trephine bone marrow histology-based approach, was provided by the Hanover group of hematopathologist (the "Hanover classification"). The present study describes a single institution experience with the Philadelphia-BCR/ABL negative CMPD diagnosed on the ...
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