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Quintal M C - - 1994
The soft tissue myxoma of the oral cavity is a rare neoplasm. We report a case arising from the palate in a 15-year-old male. A review of the literature is presented with clinicopathologic, immunohistochemical, and ultrastructural data confirming the diagnosis. The pathogenesis and differential diagnosis are discussed with reference to ...
Teyssier M - - 1994
A 46,XY (18.9%)/48,XYYY (81.1%) mosaicism in lymphocytes and a 48,XYYY karyotype in skin fibroblasts were found in a 37-year-old obese man suffering from dysplasia of the right hip. As other reported cases, he showed mental retardation and behaviour disturbances with agressiveness, sexual impulsions. Testicular biopsy revealed fibrohyalinization in about 10% ...
Lachman R S - - 1994
The skeletal dysplasias (osteochondrodysplasias) comprise a heterogeneous group of disorders that are characterized by generalized abnormalities of skeletal growth and development. Of approximately 125 well-described skeletal dysplasias, about 50 are clinically apparent and identifiable at birth. The prevalence of these dysplasias in the newborn is quite frequent and has been ...
Bearzi I - - 1994
The results of a ten-year follow-up study on gastric dysplasia (GD) are reported. A total of 260 cases were diagnosed, 125 of which had an adequate follow-up, 81 Low Grade Dysplasia (LGD) and 44 High Grade Dysplasia (HGD). Patients with LGD were younger than patients with HGD, while no significant ...
Vallcanera Calatayud A - - 1994
Severe unilateral varus deformity of the distal end of the femur secondary to a focal fibrous lesion is reported. It is a malformative process rare at this level, this being the first report of it in the radiological literature. The conventional radiograph is pathognomonic and CT is useful in the ...
Greally M T - - 1993
Atelosteogenesis I (AT-I) and Boomerang dysplasia have been described as separate lethal bone dysplasias. The possibility of a common cause of both conditions was suggested by Hunter and Carpenter (Clin Genet 39(6): 471-480, 1991) in their report of a patient with apparent manifestations of both AT-I and Boomerang dysplasia. We ...
Fryburg J S - - 1993
Frontonasal dysplasia is thought to be a sporadic condition limited to the face and head. We describe a family from the Bahamas in which a mother, 2 of her children, and the mother's brother have variable manifestations of frontonasal dysplasia. The mother has extremely mild expression, but her brother and ...
Prayson M A - - 1993
An association between fibrous dysplasia and myxomas (soft-tissue neoplasms of mesenchymal origin) has been described in the literature. The authors report another such case of fibrous dysplasia/myxoma coexistence: a patient with polyostotic fibrous dysplasia who developed right anterior thigh pain from a solitary intramuscular myxoma. After a thorough review of ...
Shohat M - - 1993
We report a distinct type of spondyloepimetaphyseal dysplasia seen in 2 sibs and their second cousin, characterized by early onset severe short stature, small chest, and distended abdomen. They had short neck, severe lumbar lordosis, and marked genu varum due to fibular overgrowth and joint laxity. Radiographically, the patients had ...
Ohzeki T - - 1993
We report on a Japanese girl and her mother with brachydactyly. Their 2nd and 5th middle phalanges were short and the latter was fused with the distal phalanx in one of the patients. Length and shape of proximal and distal phalanges as well as metacarpals seemed normal. These findings are ...
Fetsch J F - - 1993
We report 10 cases of a distinctive benign fibrous lesion characterized by the presence of abundant hyalinized collagen with psammomatous or dystrophic calcifications and a lymphoplasmacytic infiltrate. The lesions were present from 2 months to 10 years before resection and ranged in size from 2.5 to 15 cm. They involved ...
Ward M R - - 1993
The patient described in this report had an apical radiolucency in the incisor region of the mandible. This had a similar appearance to an extensive periapical granuloma; misdiagnosis might easily have been made, especially since there had been a history of previous trauma to the region. The incisors were found ...
Normann E K - - 1993
Campomelic dysplasia (CD) is a rare skeletal dysplasia. The incidence, reported in the literature, is 0.05-0.09 per 10,000 live births. During the period December 1985-December 1990 there were 18,350 live births with 4 cases of CD at Aker University Hospital in Oslo, Norway. This gives an incidence of CD in ...
Khungar A - - 1993
Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. ...
Soekarman D - - 1993
Internal hydrocephalus with partial hypoplasia of the cerebellum was observed in a severely mentally retarded boy who showed signs of ectodermal dysplasia. Diagnostic considerations are discussed. Reports of the triad mental retardation-CNS malformation-ectodermal dysplasia are rare. In 1989 we reported a case with these signs that shows a striking facial ...
Dubey S P - - 1993
Klippel-Feil syndrome is a clinical triad consisting of short neck, decreased head mobility, and low occipital hairline. Additional deformities of the musculoskeletal and the neural system may also be present. Otological defects occur in about one third of these patients. They are seen either unilaterally or bilaterally and accompanied by ...
Gonzalez-del Angel A - - 1992
We report on a girl and her mother with delayed intramembranous ossification of the cranial vault. The 11-month-old girl had a large ossification defect involving parietal bones, squamous portion of temporal bones, and interparietal region of occipital bone, while the mother showed a complete ossified cranial vault with flat posterior ...
Pattinson R C - - 1992
Tibial dysplasia is a rare congenital deformity which must be distinguished from the more common fibular dysplasia. We have reviewed 24 patients with 35 affected legs. The classification system of Kalamchi and Dawe (1985) was found to be preferable to that of Jones, Barnes and Lloyd-Roberts (1978) as a guide ...
Boullier J - - 1992
A rare case of multicystic dysplasia in half of a horseshoe kidney is presented. Proper evaluation led to a modified surgical approach necessary for adequate exposure, division of the isthmus, and removal of the diseased component. Considerations applicable to the treatment of multicystic dysplasia and renal fusion are discussed. The ...
Schrander-Stumpel C - - 1992
We report on a 16-year-old girl with mandibuloacral dysplasia, a rare progeroid syndrome. She presented at age 2 years with thin skin on the limbs, characteristic face with prominent eyes, a pinched nose, micrognathia, and small mouth. Hair was sparse and brittle. The terminal phalanges were hypoplastic and showed acroosteolysis. ...
Friedrich U - - 1992
We describe a newborn girl with virtually all the characteristics of campomelic dysplasia except for overt campomelia. This observation and similar cases previously reported indicate that campomelia is a variable feature in campomelic dysplasia. In contrast, hypoplasia of the scapulae is a constant finding and should be regarded as a ...
Verloes A - - 1992
Restrictive dermopathy is a rare, lethal autosomal recessive syndrome. We report on 3 unrelated affected stillborn infants of consanguineous parents. Clinical findings include a tight, thin, translucent, taut skin, which tears spontaneously in flexion creases, arthrogryposis multiplex congenita (including the temporomandibular joint), enlarged fontanelles, typical face and dysplasia of clavicles ...
Quinn P D - - 1992
Cleidocranial dysplasia is associated with the formation of many supernumerary teeth which usually fail to erupt. In later life, cysts may form around the embedded teeth. The following report describes the management of such a case with a method which promotes satisfactory prosthodontic rehabilitation.
Awange D O - - 1992
This communication reviews the literature on fibrous dysplasia of the jaws particularly the available published reports on this condition from Africa. It reveals that few cases appear to have been reported from Africa, reflecting the lack of research work and case reports. The majority of these cases are generally reported ...
Gupta S - - 1992
Of the various entities producing adrenal hyperfunction, nodular adrenal hyperplasia is rarely described, however, recent reports have established it as a distinct cause of Cushing's syndrome. Although the etiology of this disease remains uncertain, two distinct forms are recognised, namely: macronodular hyperplasia and micronodular dysplasia. Establishing the diagnosis preoperatively is ...
Tay Y K - - 1992
We report two brothers with anhidrotic ectodermal dysplasia (AED). AED is characterised by a triad of inability to sweat dental abnormalities and hypotrichosis. Although rare, it is important to diagnose this condition as it may lead to considerable morbidity and mortality if unrecognised. The typical features of this entity as ...
Goff B A - - 1992
The importance of endocervical glandular atypia in a cervicovaginal Papanicolaou smear has not been fully investigated. Between July 1988 and June 1989, 21,930 cervicovaginal smears were reviewed by the Massachusetts General Hospital Cytopathology Laboratory. One hundred smears with endocervical atypia were identified, an incidence of 0.46%. Follow-up was available on ...
Ishida T - - 1992
A clinicopathological and immunohistochemical study of 12 cases of osteofibrous dysplasia (OFD), two cases of differentiated adamantinoma, and five cases of adamantinoma of long bones is presented. Although OFD and differentiated adamantinoma showed similar radiologic findings, differentiated adamantinoma was more likely to be a recurrent lesion than osteofibrous dysplasia and ...
Ueda Y - - 1991
In view of the still disputed relationship between adult adamantinoma and osteofibrous dysplasia in children, a unique case of adamantinoma, indicating a direct relationship between the two lesions, is presented with a review of the literature. The patient was a six-year-old boy who complained of pain and swelling in the ...
Yeager J K - - 1991
Two cases of digitate dermatosis are presented. The clinical and histopathologic features of this unique entity are reviewed. We suspect that digitate dermatosis may be more prevalent than reported.
Wenger D R - - 1991
We report the case histories, radiographic and computed tomographic studies, and histologic findings of two children with metachondromatosis who developed avascular necrosis (AVN) of the femoral ossific nucleus. The first was a 9-year-old boy with involvement of both femoral heads; the second was an 8-year-old girl with involvement of her ...
Feller L - - 1991
The clinicopathological features of 130 cases of leukoplakia and 8 patients with erythroplakia of the oral mucosa are reviewed. Cases were selected on the basis of definitions agreed to at an international seminar. The patients with leukoplakia were predominantly men, (1.5:1), most were White (86.2%) and the peak age frequency ...
Pathare A V - - 1991
A rare case of disproportionate short stature suggestive of spondylo-epiphyseal dysplasia tarda is reported and relevant literature reviewed. It is emphasized that its radiological features show a marked similarity to ochronotic spine, with which it is therefore commonly mistaken. An indeterminate pigment was observed in the liver biopsy in this ...
Chindia M L - - 1991
This article reviews the present clinical, radiographic and histologic features of fibrous dysplastic lesions of the jaws. A case is presented of an apparently reactivated fibrous dysplastic jaw lesion, with evidence of cystic degeneration, in a 33-year-old female school-teacher who was first seen at the Department of Dental Surgery, University ...
Dimino-Emme L - - 1991
Trichotillomania is a form of traction alopecia resulting from compulsive repetitive removal of one's own hair. This entity can mimic the clinical appearance of many other forms of hair loss including alopecia areata, androgenetic alopecia, and tinea capitis. It is important to differentiate trichotillomania from other forms of alopecia because ...
Inoue G - - 1991
Twenty cases of microgeodic disease affecting the hands or feet of children are presented, and the relevant literature is reviewed. Clinical features include chilblain-like appearance and tenderness of the involved digits. Radiographically patchy osteoporosis of the diaphysis and/or sclerosis of the diaphysis and rarefaction of the metaphysis with cortical erosion ...
Buly R L - - 1991
Retroversion of the proximal femur is associated with a number of acquired conditions but is unusual in a congenital form. It is even more unusual to be associated with acetabular dysplasia. A 38-year-old woman with bilateral hip pain had roentgenographic evidence of acetabular dysplasia with valgus neck-shaft angles. Physical findings ...
MacDermot K D - - 1991
We report two patients with severe combined immunodeficiency and short stature/short limb skeletal dysplasia. Case 1 presented at birth with rhizomelic shortening of the extremities and bowing of the femora. She developed clinical signs of severe combined immunodeficiency at 13 months and died at 21 months. Case 2 had severe ...
Groisman G - - 1990
Fibrous hamartoma of infancy is a benign, uncommon, predominantly fibrous tissue proliferation arising from the subcutaneous tissue during the first 2 years of life. We report a case of fibrous hamartoma of infancy in the scrotum. Clinical and pathological characteristics, including immunohistochemical findings, as well as management are discussed with ...
Shah K C - - 1990
Congenital ectodermal dysplasia is a group of familial disorders that affect tissues and organs of ectodermal origin to varying degrees. Our patient with classical X-linked anhidrotic ectodermal dysplasia (AED) showed unusual skin manifestations including cafe-au-lait spots on the face, neck, buttock, and lumbo-sacral region; depigmentation of mucous membrane of the ...
Turnpenny P D - - 1990
We report two sibs, the ninth and tenth cases of a distinctive familial skeletal dysplasia. Designated kyphomelic dysplasia, the condition is a short limbed dwarfism characterised by very short angulated femora, variable bowing of other long bones, irregular, flared metaphyses, restricted joint mobility, a small thorax and short trunk, a ...
Shaw R M - - 1990
The patient in this report is a young boy with hypohydrotic ectodermal dysplasia. His case is exceptional in that anodontia was complete in both deciduous and permanent dentitions. A brief review of this condition is presented along with the prosthetic management of the case which emphasizes the need for regular ...
Canki-Klain N - - 1990
Two new patients with pseudodiastrophic dysplasia are reported. Clinical and radiologic features, genetics, as well as, course and management of the disease are described for these two patients and seven others reported in the literature. Based also on histological findings, special emphasis is put on differential diagnosis with diastrophic dysplasia.
Harris E J - - 1989
Congenital ball-and-socket ankle deformity is a complex pediatric orthopedic deformity that usually is associated with a short limb, a short fibula, distal tibial dysplasia, rearfoot coalition, and ray deficiency. The author reviews the literature on this orthopedic complex, presents two cases, and discusses the practical clinical management of this syndrome.
Fieldman R J - - 1989
Fibrous histiocytomas (FHs) of the oral cavity are exceedingly rare. We report a case of fibrous histiocytoma located in the soft palate of an 11-year-old male. A review of the English literature shows only 4 previously reported cases in this location. This report includes an overview of the clinical and ...
Hauman C H - - 1989
Two cases of orofacial mucormycosis are reported. The first patient represents the typical progression of rhinocerebral mucormycosis with infiltration of the sinuses, the orbit, and the brain. The second patient had a tumorous maxillary lesion resembling fibrous dysplasia clinically and radiographically. Microscopically, the fungal infection in case 2 was associated ...
Flandry F - - 1989
Twenty-nine cases of pigmented villonodular synovitis (PVS) of the knee in 27 patients were reviewed to determine characteristic roentgenographic findings. All cases met strict histologic criteria for diagnosis. Four cases were localized PVS (LPVS), and 25 cases were diffuse PVS (DPVS). Roentgenographic findings were largely in the soft tissues. Cystic ...
Palley S L - - 1989
When Barrett's esophagus is complicated by adenocarcinoma, surgery is indicated in appropriate patients. Until now, high-grade dysplasia in Barrett's esophagus has been managed in a similar fashion. We explore this approach and review reported cases of high-grade dysplasia to suggest guidelines for collection of data to make future clinical decisions ...
Sano K - - 1989
Morphometric assessment including epithelial indices which express morphological features of the epithelium, mitotic index, mean nuclear area, mean form factor of the nucleus and cellular infiltration in the stroma was performed in 14 cases with oral non-dysplastic epithelium and 66 cases with dysplastic epithelium. The results from morphometry showed a ...
Musella A E - - 1989
Most cases of florid osseous dysplasia are asymptomatic and are found during routine radiographic examination. The radiographic spectrum is similar to that of other benign fibro-osseous lesions, beginning as a radiolucent lesion and becoming more radiopaque as the involved bone becomes more sclerotic. Many benign fibro-osseous lesions demonstrate similar histologic ...
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