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Results 301 - 350 of 473
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Pisano J J - - 1997
Plasmacytoma of the jaw bones and oral cavity, as in other anatomic sites, comprises three distinct entities: multiple myeloma, solitary plasmacytoma of bone, and extramedullary plasmacytoma. This article is a retrospective study of 13 cases; 9 occurred in the mandible and 4 in the maxilla. The most common radiographic finding ...
Ahn W S - - 1997
Retinoids, a family of molecules capable of profound impact on many biological functions, have antiproliferative, differentiative, and immunomodulatory properties. The present study assessed the effect of 13-cis-retinoic acid (13-CRA) treatment in 13 chronic cervicitis and 52 cervical intraepithelial neoplasia patients. We examined low- and high-risk human papilloma virus titer (using ...
Hall B D - - 1997
The fourth reported case of humero-spinal dysostosis is notable in that (a) it confirms the unique combination of bifid distal humeri and coronal clefts, (b) involves a third unique feature as being mitral valve thickening. (c) suggests a more generalized involvement of bone in the form of a dysplasia, and ...
Ziada H - - 1997
Ectodermal dysplasia is a rare group of inherited disorders, transmitted as an X-linked recessive. Patients with ectodermal dysplasia usually exhibit a fine smooth dry skin, with partial or complete absence of sweat glands. The main dental manifestation is hypodontia, which is of variable severity. Peg shaped teeth and reduced vertical ...
Phillips D R - - 1997
Dysplasia epiphysealis hemimelica is a rare developmental disorder affecting one or more epiphyses in a limb or a tarsal or carpal bone. It is due to abnormal cartilage proliferation with subsequent endochondral ossification and generally involves the medial or lateral half of the epiphysis. Our case involved the lateral aspect ...
Alpsoy E - - 1997
Hyperkeratosis of the nipple and areola is a rare condition; its characteristic properties are verrucous thickening and brownish discoloration of the nipples and areola. The nevoid form of the disease is extremely rare, usually seen in women in the second or third decade of life. The nipple is seldom affected ...
Toutain A - - 1997
Report of a case and review of the literature: We report the case of a seven-year-old female kabuki patient suffering from severe bilateral deafness related to Mondini dysplasia and ossicular anomalies. A review of the literature in English confirms that hearing loss is a major component of Kabuki Syndrome (KS) ...
Pueblitz S - - 1997
Pseudomelanosis duodeni is rarely seen in children. It manifests endoscopically as peppery speckles in the duodenal mucosa. This pigment corresponds principally to accumulation of ferrous sulfide in macrophages within the lamina propria. We report the case of a 16-year-old boy with ectodermal dysplasia who underwent renal transplantation for vesicoureteral reflux ...
Seftel M D - - 1996
We report on a case of lethal neonatal mandibuloacral dysplasia. Large confluent fontanelles, sparse fine hair and eyebrows, pseudo-exophthalmos, micrognathia, bulbar digits, and short clavicles were present. In addition, we describe for the first time the presence of glandular hypospadias in this disorder. We propose that this neonatally lethal case ...
Segal L S - - 1996
Dysplasia epiphysealis hemimelica is a rare developmental abnormality involving aberrant epiphyseal cartilage growth. This is the first known case report describing dysplasia epiphysealis hemimelica arising from the sacroiliac joint. The operative technique described through an indirect computed tomography guided approach limited the exposure and potential morbidity involving the sacroiliac joint.
Coleman H - - 1996
Cemento-osseous dysplasia is a fairly common lesion of the jaws originating from the elements of the periodontal ligament. Most lesions do not have a hereditary basis, however a few familial cases have been documented. This is the first report of the florid form of cemento-osseous dysplasia in an African family. ...
Nishimura G - - 1996
We report on a 14-year-old Japanese boy with radiographic features resembling those of Desbuquois dysplasia, including advanced carpal ossification, a "monkey wrench" appearance of the proximal femora, mild spondylar dysplasia, and generalized osteopenia. In contrast to the hitherto known patients with this disorder, however, his birth length was normal, and ...
Pigno M A - - 1996
Ectodermal dysplasia is commonly a difficult condition to manage with prosthodontics because of the typical oral deficiencies and because the afflicted individuals are quite young when they are evaluated for treatment. It is important that these individuals receive dental treatment at an early age for physiologic and psychosocial reasons. This ...
Hunter A G - - 1996
Despite expanding knowledge and technological advances there are patients whose diagnosis remains unknown, either due to failure to recognize previously reported cases, or because the patient represents an undescribed condition. The woman described in this paper has distinctive clinical signs and it is hoped this will lead to the rediscovery ...
Delap T G - - 1996
Fibro-osseous dysplasia is a developmental non familial, benign anomaly of bone development occurring in single or multiple bones, characterised by the replacement of normal bone by fibro-osseous tissue. We describe the case of a fourteen year old boy, which illustrates many of the difficulties confronting surgeons dealing with this uncommon ...
Hakim J G - - 1996
In Africa endomyocardial fibrosis (EMF) is rare outside countries where it is endemic, such as Uganda, Mozambique and Ivory Coast. The only published case in Zimbabwe was in 1957. We describe two female patients aged 22 and 19 years who presented within seven months of each other with typical clinical, ...
Baran R - - 1996
Often misdiagnosed, congenital malalignment of the big toenail is not an uncommon condition. It consists of a lateral deviation of the long axis of nail growth relative to the distal phalanx. This would be of minor importance if it were not for local complications that may arise in infancy and ...
al-Gazali L I - - 1996
We report two sibs with typical clinical and radiological features of spondylo-meta-epiphyseal dysplasia, short limb abnormal calcification type. In both, the degree of calcification is more extensive than in the previously reported cases and involved all the epiphyses, ligaments and chondral tissues. Intelligence is normal in both children and the ...
Schild R L - - 1996
A series of three cases is reported in which the diagnosis of thanatophoric dysplasia was reached at routine mid-trimester scanning in a District General Hospital. All three patients underwent termination of pregnancy with the diagnosis of thanatophoric dysplasia confirmed by postmortem radiographic and histological examinations. A review of the current ...
Chambers T - - 1996
Most ethicists have paid little attention to the rhetorical features of case presentations. In order to examine the constructed nature of bioethics cases, this paper examines the literary characteristics of four presentations of Donald "Dax" Cowart's story. By comparing tellings of the same case, a pattern of redaction is revealed ...
Burgert S - - 1996
A case of recurring digital fibroma of childhood is presented. The natural history of this condition over several years is documented. The literature is reviewed, with particular reference to the management of the condition. Surgeons should be aware of the clinical features and the principles of management of this condition, ...
Richards A - - 1996
Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age. The diagnostic distinction can now be made radiologically by serial skeletal survey which is important for prognosis. We review ...
Roth P - - 1996
This is a report on two cases of mesomelic dysplasia Langer type. This is a rare kind of dwarfism which combines severe dwarfism with predominant shortening of the forearms and lower legs and other morphological abnormalities. The diagnosis can be made by ultrasonography in the early second trimester of the ...
Pina-Neto J M - - 1996
This is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; MIM 271640), a rare autosomal recessive skeletal dysplasia characterized by dwarfism, articular hypermobility, progressive intractable spinal malalignment, a typical facies and a propensity to joint dislocation and subluxation. The condition has been described only in ...
Rudnik-Schöneborn S - - 1996
Although large studies on sex chromosome abnormalities have not detected a higher incidence of malformations in 47,XYY males, several case reports suggest that there is an association between renal agenesis or cystic dysplasia of the kidney and XYY status. The authors report 3 further infants with XYY karyotype who had ...
MacDonald-Jankowski D S - - 1996
OBJECTIVES: To report the radiological features of florid osseous dysplasia (FOD) in a Chinese population. METHODS: Twenty-three cases of histologically confirmed FOD affecting middle-aged Hong Kong Chinese women were reviewed. RESULTS: Sixteen patients presented with symptoms arising from the lesions. Twelve cases exhibited bilateral lesions, five were in both the ...
Hong J R - - 1995
The authors report the case of bilateral gonadoblastomas in a phenotypic female, with a 46,XY karyotype, with campomelic dysplasia. Although campomelic dysplasia with gonadal dysgenesis should be expected to contribute to an increased risk of gonadoblastoma, this is the first documented case report of campomelic dysplasia and gonadoblastoma. Phenotypic females ...
Potocki L - - 1995
Autopsy records from the Women and Infants' Hospital from January 1974 through January 1994 were reviewed to identify cardiac malformations in the presence of skeletal dysplasia. Of 24 cases of lethal fetal or neonatal osteochondrodysplasias, 4 were given diagnoses in which disorders of type II collagen are regarded as causative. ...
Buss P W - - 1995
Twenty-four cases of EEC syndrome were identified as part of a nationwide study. Ectodermal dysplasia, by study definition, was present in all cases and hair and teeth were universally affected. Nail dysplasia was present in 19 subjects (79%) and the skin was affected in 21 (87%). The presence of hypohidrosis ...
Kozlowski K - - 1995
Two sibling girls with cone-shaped knee epiphyses and metaphyses are described. Bone dysplasia with this rare, distinctive, radiographic finding, was first reported by Bellini and Bardare with only few cases reported thereafter. Velores et al. divided bone dysplasias with cone-shaped epiphyses and metaphyses of the knee in two entities which ...
Yadav T P - - 1995
We report a 5-year-old girl with partial anodontia, hypotrichosis, hyperpigmentation of the skin, absence of pilosebaceous structures, and long thin fingers. There has as yet been, to the best of our knowledge, no report of such a combination of features. A review of conditions combining ectodermal dysplasia (subgroup 1-2) with ...
Dickstein J I - - 1995
In the preceding paragraphs, the features that define the various members of the CMPD have been reviewed. These features are summarized in Table 4. Knowledge of these guidelines will aid the clinician and pathologist in arriving at a proper classification; however, in most cases, it is the occasional patient whose ...
Dickey R - - 1995
Two cases of gender-dysphoric genetic females who describe a sexual attraction to phenotypic males are reported. After outlining their individual histories, the authors note common clinical features of this subtype of transsexualism. Similar characteristics have also been found in the few cases of heterosexual transsexualism in genetic females reported by ...
Miracco C - - 1995
Gastric dysplasia (high-grade, HGD, and low-grade, LGD) and normal mucosa were tested for anti-p53, anti-Ki-67 and anti-PCNA monoclonal antibodies on paraffin sections, and for relative AgNOR area and number on semithin Epon-Araldite sections. The proliferative compartment in normal mucosa was restricted to the middle layer corresponding to the neck-isthmus region. ...
Esposito S J - - 1995
Fibrous dysplasia is a benign fibro-osseous disorder that often affects both the maxilla and mandible. The dentist, therefore, is often the first person to identify and diagnose the disease. This article focuses on the pathology, diagnosis, clinical course, and treatment of this complex problem. A case report demonstrates the multidisciplinary ...
Dominguez R - - 1995
The craniocervical junction, a vital but anatomically complex region, presents additional interpretative challenges in patients with skeletal dysplasias and other syndromes involving the musculoskeletal apparatus. Our objective was to review the radiological evaluation used in such conditions; to do so, we identified retrospectively all of the occipitocervical studies done during ...
Yalniz E - - 1995
A fibrosarcoma is reported in the spine of a 53-year-old man with polyostotic fibrous dysplasia. There was no history of endocrine disturbances and no previous irradiation. Malignant transformation in fibrous dysplasia is rare. A review of the literature reveals 101 cases of malignant degeneration occurring in fibrous dysplasia. We believe ...
Ricci R - - 1995
A case of spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL) in an Italian girl is reported. This condition is mainly observed in the Afrikaans population of South Africa with an ancestral founder believed to be localized in West Germany. This case might support a link with the European origin of SEMDJL.
Bétrémieux P - - 1995
Between 1988 and 1992, 18 mechanically ventilated newborn babies (mean weight 1300 g and gestational age 30 weeks) presented with deteriorating respiratory failure at a mean age of 29 days. All developed increased oxygen requirements, hypoxic and hypercapnic episodes, and radiological changes of fixed lobar emphysema or recurrent atelectasis which ...
Devriendt K - - 1995
Craniofrontonasal dysplasia: more severe expression in the mother than in her son: We report a family with craniofrontonasal dysplasia in a mother and her son. In addition to the typical clinical features, the present case report further illustrates two sofar unexplained observations in craniofrontonasal dysplasia: a more severe clinical expression ...
Schrander-Stumpel C - - 1994
We report a male infant with de la Chapelle dysplasia (atelosteogenesis type II), a skeletal dysplasia characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia. This is a rare condition with only 10 patients described in ...
Carakushansky G - - 1994
Here we report on a girl with diploid/triploid mosaicism followed up to age 5 years. The clinical manifestations are compared to those of other reported cases. In contrast to most cases, our patient was not growth retarded despite severe delays in psychomotor development. We also discuss 2 manifestations that have ...
Sillence D - - 1994
We report the case of a newborn with a lethal newborn skeletal dysplasia, in whom skeletal and morphologic findings resembled those in schneckenbecken dysplasia except that the projection of bone from the medial aspect of the iliac bones, resembling the "snail's" head, was absent. This could be accounted for by ...
Tang A C - - 1994
Human papillomavirus has been identified with DNA hybridization techniques in Schneiderian papillomas, though results reported in the literature have been conflicting. This study investigated 33 cases of Schneiderian papilloma (26 inverted papillomas, seven fungiform papillomas). In situ hybridization using a cocktail of human papillomavirus (HPV) probes 6/11, 16/18, 31/33/35 failed ...
Patel L L Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, - - 1994
We present a case of gonadotrophin-independent precocious puberty, as seen in McCune-Albright syndrome, and Leri-Weill dyschondrosteosis in a six and a half year-old girl. Her father also reports having early puberty and is similarly affected with dyschondrosteosis. This combination of features has not been reported previously, and represents the association ...
Castañeyra-Perdomo A - - 1994
We have studied the subcommissural organ of two hydrocephalic brains, of 20 and 21 gestational weeks and of two normal brains, aged 19 and 23 gestational weeks. Both hydrocephalic cases presented a size reduction of the subcommissural organ compared to the normal cases; only in one case, there were also ...
Tope W D - - 1994
Rhinophyma may present with either of two distinct histopathologic appearances. The most common shows histopathologic features of rosacea. The second pattern shows telangiectasia, diffuse dermal fibrosis with abundant mucin, and a virtual absence of pilosebaceous structures. These histopathologic features of the lesser-known fibrous variant of rhinophyma mimic those of fibrous ...
Sinha A K - - 1994
Roberts syndrome is a rare autosomal recessive disorder with highly variable clinical features. The most notable manifestations include pre- and postnatal growth retardation, craniofacial anomalies and improper development of all four extremities. We reviewed 50 cases whose clinical evaluation has been vigorously pursued. A relationship of deformities exists between humerus ...
Moerman P - - 1994
Renal agenesis and dysplasia are frequently regarded by pathologists, even pediatric pathologists, as sporadic malformations. We report six fetal autopsy cases of hereditary renal adysplasia (HRA): two pairs of siblings, one case with paternal unilateral renal agenesis, and one case with an autosomal balanced 6p/19q translocation. The main purpose of ...
Stanciu C - - 1994
Congenital glenoid dysplasia is a rare congenital condition of the shoulder. We report the case of a 6-year-old girl that was referred to our institution for restricted motion of both shoulders. Radiological examination revealed bilateral glenoid dysplasia. At the time of the child's examination, her mother also complained of shoulder ...
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