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Results 201 - 250 of 471
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Türkmen Münevver - - 2003
Short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletal dysplasias characterized by short ribs and limbs, polydactyly, hypoplastic thorax and visceral anomalies. Our case had coarsening of facial features, low-set ears, lobulated tongue, cleft palate, and hypoplastic epiglottis. Short proximal parts of upper limbs, bilateral postaxial polydactyly of ...
Day Ruth - - 2003
We report on two cases (male twins), and a female sib terminated at 20 weeks, whose autopsy revealed features of spondylothoracic dysplasia (STD) and also a diaphragmatic hernia and preaxial polydactyly. We present the findings and review STD and the closely related spondylocostal dysostosis. On the basis of the discussion ...
Wax Joseph R - - 2003
OBJECTIVE: To describe the sonographic features of diastrophic dysplasia in 2 second-trimester index offspring. METHODS: Real-time sonography was performed on 2 second-trimester fetuses with no risk factors for skeletal dysplasia. RESULTS: Each fetus had severe bilateral upper and lower extremity long bone shortening, hitchhiker thumbs and great toes, and clubbed ...
Bell Stephen W - - 2003
This article reports the seventh known case of adenocarcinoma arising in or adjacent to an ileal pouch after proctocolectomy for ulcerative colitis. It is the second reported case of adenocarcinoma in the anal transitional zone in this setting. A literature review is presented of the six previous cases published, and ...
Currie JoVan - - 2003
Dysplasia epiphysealis hemimelica (Trevor's disease) is a rare developmental disorder of epiphyseal growth. A review of the literature reveals that metatarsal involvement has been described in only two cases and in these cases two metatarsals were reported as being only slightly enlarged. This article reports a case of dysplasia epiphysealis ...
Wu Jia-Feng - - 2003
Constipation is a common gastrointestinal complication in type I neurofibromatosis (NF-1). We present a 4-year-8-month-old boy with NF-1 bothered by chronic episodic constipation and diarrhea since early childhood. Rectal suction biopsy confirmed the diagnosis of intestinal neuronal dysplasia. To our knowledge, this is the first Chinese child reported to have ...
Sheppard William M - - 2003
Craniometaphyseal dysplasia (CMD) is a genetic syndrome involving cranial and tubular bone anomalies that commonly present at a young age, often with otolaryngologic manifestations. In this paper, we report a rare case of a sporadic form of the disease resulting in an early state of hypocalcemia with secondary hyperparathyroidism. A ...
MacDonald-Jankowski D S - - 2003
OBJECTIVES: To evaluate the principal features of florid cemento-osseous dysplasia (FCOD) by systematic review (SR), with particular regard to comparison of Oriental with non-Oriental populations, and of reports derived from pathology files with those from non-pathology sources. METHODS: All alternative names for FCOD were used as search terms for two ...
dos Santos Jean N - - 2003
BACKGROUND: Actinic cheilitis (AC) is a widely recognized precancerous lesion of the lip. Varying degrees of epithelial dysplasia may be present. However, no studies have correlated epithelial changes with cytokeratin expression that might reflect the disordered maturation that is probably occurring. METHODS: Thirty-four cases diagnosed as AC were classified according ...
Yasuoka Tadashi - - 2003
The long-term follow-up case of monostotic fibrous dysplasia of the maxilla in a 10-year-old girl is described with her endocrinologic data and therapeutic consequence of calcitonin administration in association with surgical interventions. The fibrous dysplasia tends to become more quiescent or static after skeletal growth ceases, but the causative has ...
Honey E M - - 2003
Spondyloenchondromatosis (SEM) is a rare skeletal dysplasia which presents with multiple enchondromata in the metaphyses of the long bones associated with dysplastic vertebral bodies. It is probably heterogeneous. We have investigated and documented a male infant in South Africa with spondyloenchondromatosis and persistent D-2-hydroxyglutaric aciduria (D2HA). D2HA is a neurometabolic ...
Pryde Peter G - - 2003
Severe localized and symmetric bowing of the femora, in the absence of other significant skeletal or nonskeletal abnormalities, is a rare prenatal ultrasound finding. A 38-year-old woman was referred at 19 weeks gestation and ultrasound of the fetus showed severe shortening, and marked symmetric bowing of the femora. A provisional ...
Parilla Barbara V - - 2003
OBJECTIVE: To assess the accuracy of the prenatal diagnosis of skeletal dysplasias. METHODS: All antenatally detected anomalies are coded in our ultrasound database, which is linked with a genetics database that includes outcomes. A final diagnosis is sought on the basis of radiographic studies, molecular testing, or both. Our ultrasound ...
Harzy Taoufik - - 2003
Acroosteolysis is characterized by bone resorption in the fingers and toes and can occur in several diseases. Phalangeal acroosteolysis is a rare idiopathic form. We report a case in a 13-year-old girl with a 2-year history of swelling and skin ulcers of the second and third left fingers and second ...
Miller Stephen F - - 2003
BACKGROUND: Punctate or stippled cartilaginous calcifications are associated with many conditions, including chromosomal, infectious, endocrine, and teratogenic etiologies. Some of these conditions are clinically mild, while others are lethal. Accurate diagnosis can prove instrumental in clinical management and in genetic counseling. OBJECTIVE: To describe the diagnostic radiographic features seen in ...
Rao Sudha - - 2003
McCune Albright Syndrome (MCAS) is an association of, Café-au-lait macules, polyostotic fibrous dysplasia and autonomous hyperfunctioning endocrinopathy. This is a rare disorder seen more commonly in females. We evaluated 7 (6F & 1M) cases under six years of age (4 months to 5.5 yrs) presenting with Café-au-lait spots, polyostotic fibrous ...
Klinge L - - 2002
Microcephalic osteodysplastic primordial dwarfism (MOPD) is defined as a syndrome presenting with intrauterine and postnatal growth retardation, typical facial appearance, skeletal dysplasia and brain abnormalities. Autosomal-recessive inheritance is suspected. Sharing clinical manifestations, the former type III has been accepted to be the same entity as type I. We present the ...
Arizawa Masayoshi - - 2002
So far, 46 cases of placental mesenchymal dysplasia have been reported worldwide. We encountered 15 cases of placental mesenchymal dysplasia (PMD) including 7 cases delivered in our hospital. The incidence of PMD in our hospital was therefore, 7/30,758 (0.02%). The PMD had a peculiar appearance. In the gross findings, large ...
Velez Ines - - 2002
Segmental odontomaxillary dysplasia is a rare childhood disorder. The condition affects bone growth and maturation and causes maldevelopment of the ipsilateral teeth and gingiva. Lips and skin also may be affected. The purpose of this article is to describe two cases of segmental odontomaillary dysplasia and summarize the clinical and ...
Muñoz Rojas María Verónica - - 2002
Grebe-Quelce-Salgado chondrodystrophy is an autosomal recessive non-lethal skeletal dysplasia. Affected individuals have normal head, neck, and trunk skeleton, relatively normal humeri and femora, short and deformed radii, ulnae, tibiae, and fibulae, and severe abnormalities of hands and feet. Polydactyly is frequent. Digits present as globular appendages and are characteristic of ...
Warashina Hideki - - 2002
Angel-shaped phalango-epiphyseal dysplasia is characterized by the angel shape of the middle phalanx and severe coxarthrosis in adult life. This osteochondrodysplasia shows a further variety of heterogeneous multiple epiphyseal dysplasias. It also shows a late and dysplastic development of the femoral head that leads to osteoarthrotic changes with severe hip ...
Sarisozen B - - 2002
Adamantinoma of the long bones is a rare, low-grade malignancy with a marked predilection for the tibia and is usually seen in patients during the second to fifth decades of life. Adamantinomas have also been reported in children, but the histological pattern in this age group is different from that ...
Sirvanci M - - 2002
Fibrous dysplasia is a developmental disorder caused by abnormal proliferation and maturation of fibroblasts resulting in replacement of mature bone by structurally weak, immature woven bone. Clival involvement in monostotic fibrous dysplasia is extremely unusual, and has rarely been reported previously. We report a case of monostotic fibrous dysplasia of ...
Plötz G M J - - 2002
In acetabular dysplasia, an overloading of the acetabular rim can cause a stress fracture, creating an 'os acetabuli', or a lesion of the acetabular labrum. At puberty, the os acetabuli seems to be the epiphysis of the os pubis. We present the case of a 14-year-old girl with acetabular dysplasia ...
Itshayek Eyal - - 2002
OBJECTIVE AND IMPORTANCE: Fibrous dysplasia of the cranium is a relatively uncommon disorder that affects primarily the anterior cranial region; its occurrence in the cranial base in combination with aneurysmal bone cyst (ABC) constitutes an extremely rare condition, only two cases of which have been reported previously in the literature. ...
Rodriguez Natalia - - 2002
PURPOSE: To report a case of bilateral panuveitis in a patient with hypohidrotic ectodermal dysplasia. DESIGN: Interventional case report. METHODS: A 6-year-old African-American boy with hypohidrotic ectodermal dysplasia presented with pain, photophobia, and decreased vision in both eyes. RESULTS: Findings included severe bilateral panuveitis with optic disk edema, macular epiretinal ...
Comer Toby L - - 2002
Generalized pulpal calcifications arouse suspicion of diseases or conditions of systemic or hereditary origin. This case report describes a 45-year-old patient with generalized pulpal calcifications and bulging of the roots in areas corresponding to the pulp chambers in otherwise normal teeth. Similar findings were present in the patient's daughters and ...
Gao Han - - 2002
Two cases of fibrous dysplasia of the skull complicated with meningioma that are seldom seen were reported.
Uda Hirokazu - - 2002
The purposes of this study were to evaluate the results of the operative treatment of lateral ray polydactyly and to consider appropriate surgical procedures, especially focusing on the selection of the toe, lateral toe or medial toe, to be resected. Twenty-two patients with lateral ray polydactyly foot (25 individual feet) ...
Seymen Figen - - 2002
An interesting case of a seven years old boy with a combination of clinical, genetic, radiological, pathologic and dental findings is presented in view of Seckel syndrome literature. General appearance of the patient was characterized by small forehead, posteriorly slanted ears, slightly beaked nose, midfacial hypoplasia very stunted stature with ...
Cheng Chunmei - - 2002
We report a case of cemento-ossifying fibroma (COF) involving the maxillary and sphenoid sinuses and review the literature in order to study the clinical features, imaging findings and histopathologic characteristics of COF. Special care was taken to distinguish this lesion from cemento-osseous dysplasia (COD). It is almost inevitable that differential ...
Kölble N - - 2002
Skeletal dysplasias, a heterogeneous group of bone growth disorders, can be detected by routine prenatal ultrasound examination. As it is difficult to make a specific diagnosis, prediction of prognosis is of importance for obstetric management. In order to specify diagnosis, radiological, pathological and molecular genetic examination are often required. Our ...
Paradinas F J - - 2001
AIMS: To describe the clinical and histological features of a series of cases of placentas originally diagnosed as partial moles in which the final diagnosis was that of placental stem villous hydrops, mesenchymal dysplasia or Beckwith-Wiedemann syndrome. METHODS AND RESULTS: We searched a computerized database containing cases of suspected or ...
Dhooge I - - 2001
OBJECTIVES: To report two cases of cleidocranial dysplasia in which hearing loss was the first presenting symptom. STUDY DESIGN: Retrospective case review. PATIENTS: Two cases of cleidocranial dysplasia, a rare autosomal dominant skeletal dysplasia affecting both membranous and enchondral bone formation. SETTING: Tertiary referral center. INTERVENTIONS: Clinical, audiometric, and imaging ...
Kalaycioglu A - - 2001
A 14 year old boy with proximal focal femoral deficiency (PFFD) on left side, contralateral hip dysplasia in association with ulnar hypoplasia and cleft hand was seen our clinic one year ago. From our research, despite it is atypical presentation, this case in a broad context conforms with the femoral-fibula-ulna ...
Malagón V - - 2001
In approximately 25% of patients with hereditary multiple exostosis, there is an abnormal osteochondral formation localized in the femoral proximal metaphysis. This formation often causes a mechanically progressive insufficiency of the acetabular cavity, a true developmental hip dysplasia, that together with a coxa valga deformity, which is also present, causes ...
Kamoda T - - 2001
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 ...
Hall B D - - 2001
Three new cases of Desbuquois syndrome in two brothers and a sporadic male, all of whom died in early infancy, are presented to emphasize the high rate (33 %) of lethality in this variable, but serious skeletal dysplasia. Including the three presented patients and 10 of the 36 cases in ...
Nijs E L - - 2001
We present the case of a 9 months old boy with an X-linked form of anhidrotic (hypohidrotic) ectodermal dysplasia. Several chest X-rays had been performed to rule out pneumonia because of recurrent episodes of high fever. The child's lack of tooth buds (hypodontia), which could be encountered on the margins ...
Al-Gazali L I - - 2001
We report a baby with severe micromelic dwarfism characterized by severe shortening of the humeri, femora and tibiae with hypoplastic radii, ulnae and fibulae which are of normal shape. We suggest that this case is similar to the case reported by Baxova et al [(1993), Paediatr Radiol 23:446-449] confirming the ...
Horn L C - - 2000
In 1988 Greenberg et al. reported an association of fetal hydrops with irregular calcification and moth-eaten skeletal dysplasia. Here, we report on the first case of this disorder accompanied by additional malformations (omphalocele, intestinal malrotation, disturbed fingernails and toes, hypolobated lungs) in a German couple without consanguinity (karyotype 46,XY). Sonograpically, ...
Prasad C - - 2000
Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this disorder. The differential diagnoses of prenatal and perinatal semilethal skeletal dysplasias and salient ...
Huang H Y - - 2000
Congenital hepatic fibrosis (CHF) is associated with autosomal recessive polycystic kidney disease (ARPKD). Although cystic renal dysplasia (CRD) is the most common form of newborn cystic renal disease, this disorder of anomalous metanephric differentiation is only rarely found concurrent with CHF. Our literature review found only 13 sporadic and 12 ...
Gonzalez-Moles M A - - 2000
BACKGROUND: Suprabasal expression of Ki-67 is assessed as a marker for oral dysplasia. The study involved non-neoplastic epithelium adjacent to 74 oral squamous cell carcinomas. METHODS: An immunohistochemical technique was carried out (peroxidase-antiperoxidase) with the monoclonal antibody MIB-1. Epithelial expression of Ki-67 was classified as being absent, basal, and suprabasal. ...
Angliss R D - - 2000
Three cases of acetabular dysplasia associated with failed ossification of the ischiopubic synchondrosis are presented. The patients are second-degree relatives and all skeletally mature with no evidence of other pathological process to delay ossification. A summary of the development of the inferior pubic ramus is presented and the literature of ...
Petrikowski C G - - 2000
Erdheim-Chester disease is a rare systemic lipogranulomatous disorder of adults that shares some histopathologic features similar to Langerhans' cell histiocytosis and that results in characteristic radiographic changes in the long bones. Relatively few cases have been reported in the jaws. We present a literature review of jaw cases and the ...
Dubey S P - - 2000
Frontonasal dysplasia is defined as hypertelorism, telecanthus and broad bridge of the nose with absent or bifid tip of the nose. The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic paraplegia, mental retardation, blindness, and cleft lip and cleft palate are discussed. ...
Paterson A - - 2000
The case of a 27-year-old female patient with tricho-rhino-phalangeal (TRP) type I syndrome is reported. The patient demonstrated the classical features of slowly growing hair, a bulbous nose and brachydactyly with swelling at the interphalangeal joints, but in addition showed some of the less common manifestations such as supernumerary teeth ...
Bittencourt L P - - 2000
Hereditary gingival fibromatosis is a proliferative fibrous lesion of the gingival tissue that causes esthetic and functional problems. Both genetically and pharmacologically induced forms of gingival fibromatosis exist. This paper reports a case of severe generalized hereditary gingival fibromatosis in a 5-year-old girl. Treatment consisted of surgical removal of the ...
Powell J L - - 2000
We report a case of sigmoid perforation, peritonitis, and adult respiratory distress syndrome after a loop excision procedure for carcinoma in situ of the cervix and dysplasia of the vagina. Treatment of vaginal dysplasia with loop excision is potentially dangerous. Safer methods of management include carbon dioxide laser, topical 5-fluorouracil, ...
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