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Results 251 - 300 of 471
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Wang H C - - 2000
Hypohidrotic ectodermal dysplasia was first described by Thurnam in 1848. It is a rare, X-linked, recessive disorder characterized by anhidrosis or hypohidrosis, hypotrichosis, dental hypoplasia and characteristic facial features. Herein, we report a typical case of hypohidrotic ectodermal dysplasia. A 20-year-old male presented with the above symptoms at birth. When ...
Michael C B - - 2000
The authors present a case of visual loss associated with fibrous dysplasia of the anterior skull base and the surgical management of this case. Preoperative computerized tomography scanning in this patient demonstrated a patent optic foramen and a rapidly growing cystic mass within the orbit, which was responsible for the ...
Chow L T - - 2000
Monostotic fibrous dysplasia of the spine is rare. We report its clinical, radiologic and histologic features affecting a 47-year-old housewife. She presented with low-back pain of 1-year's duration, and radiographs showed a diffuse expansile lesion in the left transverse process of the fourth lumbar vertebra. The lesion was excised and ...
Stahl J - - 2000
PURPOSE: To report the use of excimer laser phototherapeutic keratectomy (PTK) in the treatment of corneal subepithelial nodular scarring in a child with Rothmund-Thomson syndrome (RTS), a form of ectodermal dysplasia. METHODS: A case report and review of the literature. RESULTS: Excimer laser PTK successfully treated the recurrent anterior stromal ...
Williams H K - - 2000
Juvenile ossifying fibroma (JOF) is a well-defined clinical and histological entity that has recently been separated from other fibro-osseous lesions, including cemento-ossifying fibromas. Its biological behaviour is well defined, but unexplained. Its behaviour, clinical and histological appearance, however, bears resemblance to osteofibrous dysplasia of long bones, a lesion that in ...
Oostra R J - - 2000
Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by generalized osteosclerosis and advanced skeletal maturation. The histopathological characteristics of three novel cases (two isolated cases and a sib-pair) of BOCD are presented and correlated with the clinical and radiographical findings, and the relevant literature is reviewed. ...
Sakamoto A - - 1999
Fibrous dysplasia and osteofibrous dysplasia are both benign fibro-osseous lesions of the bone and are generally seen during childhood or adolescence. Histologically, the features of these bone lesions sometimes look quite similar, but their precise nature remains controversial. We retrospectively studied clinicopathologic findings in 62 cases of fibrous dysplasia and ...
Altavilla G - - 1999
Congenital absence of portal vein (CAPV) is a rare malformation. To our knowledge, sixteen cases are reported in western literature. All the cases are associated with other diseases, cardiac malformations (12/17 patients; 16 plus the present case) and hepatic neoplasms being the most frequent observations. We present the case of ...
Gopinath V K - - 1999
A case presented here is that of a nine year old male patient with total anodontia. Findings of this case as regards to the orofacial, radiographic and other general manifestations were suggestive of hypohidrotic ectodermal dysplasia. The dental problems were best managed by prosthetic replacement of dentition taking into consideration ...
Bamiou D E - - 1999
A severe malformation of the inner ear, often referred to as severe labyrinthine dysplasia or common cavity deformity, consists of an absent or dilated cochlear basal coil, wide communication with the vestibule and a tapered internal acoustic meatus and can be associated with absent hearing. We discuss two children with ...
MacDonald-Jankowski D - - 1999
OBJECTIVE: To compare the radiographic presentation of fibrous dysplasia in the jaws of Hong Kong patients with the features reported in other populations. METHODS: The clinical records and radiographs were reviewed of seven patients with fibrous dysplasia whose diagnosis had been histopathologically confirmed. Published series of fibrous dysplasia were subjected ...
Sivaraman - - 1999
A new case with the typical features of progeria (Hutchinson-Gilford) occurred in India. Histopathology of the skin showed atrophic epidermis and diffuse fibrosis of dermis with loss of appendages. Roentgenographic findings were characteristic of progeria. The child also had a gangrenous ulcer over the left foot, a finding not highlighted ...
Kosinski R W - - 1999
Dentinal dysplasia type I (DDI) is a rare disturbance in dentin formation. This case report illustrates different radiographic features from other reported DDI cases in that only one quadrant (lower right posterior teeth) has the characteristic of DDI and both right and left upper molars exhibit taurodontism. This finding might ...
Puri V - - 1999
Fibromuscular dysplasia of the carotid artery is uncommon, but not rare. Although the true incidence and prevalence of the disease are not known, reported figures in adults range between 0.6% by angiography and 1.1% at autopsy. Most case reports of stroke caused by carotid fibromuscular dysplasia describe findings in adult ...
Reinhart R D - - 1999
Subchorionic vascular aneurysms of the placenta are rare lesions and may present confusion with chorioangioma or focal mesenchymal dysplasia on sonography. To our knowledge, the findings of placental aneurysms have not been reported in the ultrasound literature. We present a case with detailed sonographic evaluation, including spectral and color Doppler ...
Macnicol M F - - 1999
Two additional cases of femoral fibrocartilaginous dysplasia are reported. The condition produces such significant angulation of the articular surfaces of the knee that progressive deformity is of concern to parents and surgeon alike. In both the reported cases, corrective distal femoral osteotomy confirmed the histologic diagnosis and ensured satisfactory gait ...
Vanhoenacker F - - 1999
We report a rare case of dysplasia epiphysealis hemimelica (DEH) in the wrist of a 7-year-old boy. Clinical, radiological and histopathological manifestations are discussed. The correct diagnosis of DEH, however, was made by the confrontation of the radiological and pathological data. The radiologist should inform the pathologist correctly about the ...
Gariba-Silva R - - 1999
The authors present a case of periapical cemental dysplasia affecting the mandibular left canine, with vital pulp, in a 43-year-old black female patient, an occurrence that follows the classical cases found in the literature. The need of a careful history, clinical and radiographic exams and vitality tests are emphasized in ...
Neumann F - - 1999
A case report on dentin dysplasia type I, a congenital disease (autosomal dominant gene defect) affecting deciduous and permanent teeth, is depicted including representations of clinical and histological features, X-ray and CT-findings. Therapy includes extraction of all teeth, ectomization of cystic alteration, revision of paranasal sinus. Aesthetic and functional rehabilitation ...
Van Delm I - - 1999
A case of osteofibrous dysplasia (OFD) of the tibia with 10 years of follow-up is presented. Spontaneous healing of this lesion occurred without any surgical intervention at the age of 10 years. The diagnosis was made retrospectively on the basis of clinical and radiographic appearance and evolution. The capricious nature ...
Brat H G - - 1999
A 40-year-old white man with a 3-year history of mild to severe right thigh and knee pain was referred for radiographic investigation. Radiographs show a fusiform, bilaterally symmetrical enlargement of the diaphyses and metaphyses of the long bones (femur, tibia, fibula, radius and ulna). A narrowed medullary cavity is illustrated ...
Braccini F - - 1999
Isolated presentation of fibrous dysplasia or primary hyperparathyroidism is a common finding. Only few cases of craniofacial dysplasia associated with hyperparathyroidism have been reported in the literature. A case of a patient with fibrous dysplasia of craniofacial bones associated with primary hyperparathyroidism without additional endocrinophaties or associated disorders, will be ...
Ogunsalu C - - 1998
The authors reviewed 15 new cases of fibrous dysplasia of the jaw bone and two cases of recurrence seen in Jamaica between 1980 and 1995. Only cases which had a histological confirmation of fibrous dysplasia were included. The clinical behaviour and radiological findings of these cases were studied from the ...
Kitoh H - - 1998
The platyspondylic lethal skeletal dysplasias (PLSD) are a group of heterogeneous disorders including thanatophoric dysplasia (TD) and the TD variants (San Diego, Torrance, and Luton types). TD is the most common form and has been divided into two subtypes (TD1 and TD2) based on clinical and radiologic criteria and analysis ...
Fyfe B S - - 1998
We report a case of an incidental finding of glycogenic acanthosis of the larynx on autopsy in a 79-year-old man who died of myocardial infarction. The lesion was grossly recognized as a white plaque (leukoplakia) on the subglottic compartment of the left side of the larynx. Histological sections revealed thickened ...
Masel J P - - 1998
Three new cases of autosomal recessive omodysplasia (ARO) are reported. One shows a new finding of craniosynostosis. One is related to a patient previously reported in 1991. Another is the first report of a patient living in Australia. The clinical and radiological findings further consolidate the condition as a distinct ...
Cullington H E - - 1998
Evoked otoacoustic emissions are well established as a hearing screening technique and are used extensively in paediatric audiology. They are believed to originate from the outer hair cells and can be detected in almost 100% of normally hearing ears; even a mild hearing loss has been shown to abolish otoacoustic ...
Uhlmann D - - 1998
We present details of a dwarfing skeletal dysplasia in two boys. Radiographs show multiple enchondromas of tubular and flat bones together with abnormalities of the spinal column. Clinical, laboratory and radiological findings enable this entity to be grouped within the spectrum of enchondromatoses with vertebral changes. A literature review suggests ...
Oyer C E - - 1998
Cleidocranial dysplasia (CCD), an uncommon disorder involving membranous bones, is rarely lethal in early life. The calvaria is defective and wormian bones are present. Abnormalities of the clavicles vary in severity from a minor unilateral defect to bilateral absence. This report concerns pre- and postmortem anatomical and radiological findings in ...
Hunter M L - - 1998
A case of Ellis van Creveld syndrome is described in which, in addition to all the major features constituting the tetrad of chondroectodermal dysplasia, there was (unusually) bipedal hexadactyly. As well as the frequently reported oral anomalies, this case exhibited taurodontism of permanent and some primary molars, a finding rarely ...
Myong N H - - 1998
Short rib-polydactyly syndrome (SRPS) is a group of lethal skeletal dysplasia of an autosomal recessive inheritance characterized by markedly narrow ribs, micromelia, and multiple anomalies of major organs. We report a case of type IV SRPS with uncommon associations of polydactyly and bilateral polycystic kidneys, in a 28 week old ...
Poul J - - 1998
Over 1 year of ultrasound (US) mass screening, 4,568 newborns were examined consecutively at age 3-4 weeks using both clinical and ultrasonographic examination methods. The US examination involved both the static and dynamic scanning. In total, 25 babies were treated early (5.5 per 1,000), and 6 babies were given late ...
Seki N - - 1998
We describe a case of a male infant with a scaphoid megalourethra. A physical examination showed a large, flabby phallus with bilateral undescended testes. The corpus spongiosum was absent with normal corpora cavernosa. Urethrography showed a crescent-shaped dilatation of the anterior urethra. Further examination revealed an association with concomitant urogenital ...
Robson W L - - 1998
A child with cystic dysplasia of the testis (CDT) that presented as a solid mass by ultrasound imaging is reported. The child also had ipsilateral multicystic dysplasia of the kidney (MCDK). A search of the literature revealed that unilateral renal agenesis (URA) is commonly associated with CDT. It is possible ...
Sener R N - - 1998
In this paper we report a 7-month-old boy with lobar holoprosencephaly in whom midline interhemispheric fusion occurred between thickened gyri cinguli of both hemispheres at the middle frontal region. This anomaly appears to be a variation of a recently recognized type of holoprosencephaly associated with midline interhemispheric fusion and atypical ...
Vandevijver N - - 1998
Lethal hypophosphatasia, spur type: case report and fetopathological study: Hypophosphatasia (HP) is characterised by severe undermineralisation of the skeleton owing to deficiency of tissue nonspecific alkaline phosphatase. Clinically a perinatal, infantile, childhood and adult type is distinguished. Clinical signs in the perinatal type of HP show considerable overlap with other ...
Brett F M - - 1998
Congenital muscular dystrophy (CMD) encompasses a heterogenous group of muscle disorders with autosomal recessive inheritance, characterized by muscular weakness and hypotonia at birth or within the first few months of life and developmental delay. Merosin-deficient CMD is a clinically distinct form which may be associated with significant abnormalities of the ...
Lautenschlager S - - 1998
An increasing number of syndromes with palmoplantar keratoderma (PPK) with associated diseases are being identified, representing a wide spectrum of distinct entities. At present only one case report has described the combination of marked anogenital leukokeratosis with diffuse PPK evolving in a collodion baby. We report a patient with a ...
d'Orey M C - - 1997
Two different forms of dyssegmental dysplasia, mild and severe, can be distinguished on clinical, radiographic and chondro-osseous morphologic grounds. The milder Rolland-Desbuquois type is frequently characterised by survival beyond the newborn period. The lethal Silverman-Handmaker type has distinctive and more severe findings. In this paper, a rare case of the ...
Di Rocco M - - 1997
We report on a 17 6/12-year-old boy with nephronophthisis, retinitis pigmentosa, left upper eyelid ptosis, enopthalmos, transmissive deafness, GH and TSH deficiency, and mild skeletal dysplasia. A similar case was reported by Bianchi et al. [1988: Helv Paediatr Acta 43:449-455] in another Italian patient. Here we confirm the previous observations ...
Muñoz R M V - - 1997
Cerebello-trigemino-dermal "dysplasia" is a rare neurocutaneous syndrome of craniosynostosis, ataxia, trigeminal anesthesia, scalp alopecia, cerebellar anomaly, midface hypoplasia, corneal opacities, apparently low-set ears, mental retardation, and short stature. It seems to be a sporadic condition but little is known about its cause and pathogenesis in the few cases reported so ...
Itthagarun A - - 1997
Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structures and their accessory appendages. Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges, nasal bridge depression, and protuberant lips. Intraorally, common findings are anodontia or hypodontia, conical teeth, ...
Wojcik L J - - 1997
PURPOSE: Cystic dysplasia of the rete testis is a benign congenital lesion that can mimic testicular cancer. We report 6 cases, review the literature, discuss the embryological etiology and make management recommendations. MATERIALS AND METHODS: The records and pathology reports of 6 boys presenting with cystic dysplasia of the rete ...
Elston D M - - 1997
BACKGROUND: When biopsy specimens lack a "swarm of bees" peribulbar lymphoid infiltrate, the diagnosis of alopecia areata depends on the recognition of other histologic features of the disease. OBJECTIVE: Our objective was to determine the frequency of the presence of eosinophils in biopsy specimens of alopecia area'a in relation to ...
Guion-Almeida M L - - 1997
We report an adult male patient born to normal and non-consanguineous parents with midline craniofacial defects associated with branchial arch anomalies. This combination of signs belongs to the oculoauriculofrontonasal spectrum. We compare our case with those previously reported who had similar findings and discuss clinical aspects of the oculoauriculofrontonasal spectrum ...
Amar M J - - 1997
Cranioectodermal dysplasia (CED) is an autosomal recessive condition characterized by defects of ectoderm-derived structures and characteristic bone anomalies. We report on a 27-month-old Caucasian girl with CED, pre- and postnatal growth retardation, microcephaly, hypoplasia of the posterior corpus callosum, photophobia, and aberrant calcium homeostasis. Since new traits were encountered, we ...
Sticha R S - - 1997
Intravascular fasciitis is a rare benign condition characterized by reactive fibroblastic proliferation arising from the superficial or deep fascia and involving arteries and/or veins. Intravascular fasciitis is a distinct variant of a more common condition called nodular or pseudosarcomatous fasciitis, which possesses clinical and histologic features similar but lacks vascular ...
Jeong H S - - 1997
This report presents a case of calcifying fibrous pseudotumor arising in the posterior mediastinum of a 54-year-old woman. The histopathologic features of this case were identical to that of calcifying fibrous pseudotumor first designated in 1993. It is a distinctive benign fibrous lesion characterized by the presence of characteristics psammomatous ...
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 ...
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