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Pearn J - - 1983
Limb or digital overgrowth occurs in a number of rare conditions. Hypertrophy is present at birth in cases of macrodactyly simplex congenita, macromelia, hemihypertrophy, and the Klippel- Trenaunay-Weber syndrome. Late-onset overgrowth is a feature of macrodystrophia lipomatosa and neurofibromatosis. We have reviewed more than 40 patients with overgrowth disorders in ...
Relevancy Score: Relevancy Score: 247
Müller Edwin - - 2002
Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having Klippel-Trenaunay-Weber syndrome at the age ...
Relevancy Score: Relevancy Score: 245
Oren Nisa Cem - - 2010
Hemihypertrophy is a clinical condition defined as an asymmetric enlargement of one side of the body. Inguinal hernias, renal cysts, cryptorchidism, ectasias of collecting tubes, medullary sponge kidney and horse-shoe kidney are examples of abnormalities associated with hemihypertrophy that have been described in the literature. We report here a 17.2-year-old ...
Relevancy Score: Relevancy Score: 243
Reize P - - 1997
The Proteus-syndrome is a recently described congenital hamartomatosis consisting of numerous clinical features of great variety. Mainly affected are the musculo-skeletal system, primarily by hemihypertrophy, macrodactyly and exostoses, and the skin and the subcutaneous tissue, primarily by pigmented naevi and subcutaneous tumors. The differential diagnosis includes other malformation syndromes, e. ...
Relevancy Score: Relevancy Score: 243
Dalal Ashwin - - 2005
Hemihyperplasia is a condition characterized by asymmetric overgrowth of one or more body parts. It may be an isolated finding or may be associated with various syndromes like Beckwith-Weidemann syndrome, Klippel-Trenaunay-Weber syndrome, Proteus syndrome etc. Pigmentary skin lesions and capillary malformations are commonly seen in cases of hemihyperplasia. We report ...
Relevancy Score: Relevancy Score: 241
Tattelbaum A G - - 1995
A new disorder describing multiple hamartomas distinct from neurofibromatosis and Klippel-Trenaunay-Weber syndrome was first reported in 1979. It was named Proteus syndrome after the Greek god Proteus, the polymorphous, who could change his shape at will to avoid capture. The clinical manifestations are extensive, including cranial exostoses; progressive enlargement, asymmetry ...
Relevancy Score: Relevancy Score: 240
Bothun Erick D - - 2011
Klippel-Trenaunay syndrome (KTS) consists of a vascular nevus involving an extremity, varicosities of that extremity, and hypertrophy of bone and soft tissue. When arteriovenous malformation is also present, it is called Klippel-Trenaunay-Weber syndrome (KTWS). Ophthalmic features of these syndromes include vascular anomalies of the orbit, iris, retina, choroid, and optic ...
Relevancy Score: Relevancy Score: 238
Atiyeh B S - - 1995
Klippel-Trenaunay (KT) or as it is also called Klippel-Trenaunay-Weber (KTW) syndrome is a rare congenital phacomatosis of uncertain aetiology and variable expression. The classical syndrome is a triad of congenital mesodermal abnormalities characterized by cutaneous angiomatous nevus commonly called port-wine stain, venous varicosities and hypertrophy of soft tissue and/or overgrowth ...
Relevancy Score: Relevancy Score: 229
Srisuwan Tanop - - 2013
Our study aimed to present a short series on the persistent sciatic vein, a rare venous variation, without Klippel-Trenaunay-Weber syndrome and to review the anatomical consideration of deep venous systems. Four cases of lower-type persistent sciatic vein were found. A combination of May-Thurner syndrome and persistent sciatic vein was found ...
Relevancy Score: Relevancy Score: 229
Teekhasaenee C - - 1997
BACKGROUND: Sturge-Weber syndrome, Klippel-Trenaunay-Weber syndrome, and oculodermal melanocytosis are neural crest disorders in which glaucoma is known to occur. Phakomatosis pigmentovascularis is a neural crest disorder that is found almost exclusively in Asians and has not been described previously in the ophthalmic literature. METHODS: The authors describe nine patients with ...
Relevancy Score: Relevancy Score: 228
Krengel S - - 2000
Congenital enlargement of one or several digits of the hands or feet (macrodactyly) is a rare disorder. A considerable proportion of the patients with this condition are referred to dermatology departments. The majority of the cases reported in the literature represent hamartomas with combined hypertrophy of several, predominantly lipomatous, soft ...
Relevancy Score: Relevancy Score: 228
Stein J - - 1992
Spinal cord arteriovenous malformations have been described in association with a variety of congenital diseases affecting the vasculature, including Klippel-Trenaunay-Weber syndrome, Rendu-Osler-Weber syndrome and others, but rarely in association with lymphatic abnormalities. We report the case of a young man with congenital lymphedema and arteriovenous malformations of one lower extremity ...
Relevancy Score: Relevancy Score: 228
Dalal Ashwin B - - 2006
OBJECTIVE: Hemihyperplasia is a heterogenous group of disorders characterized by asymmetric limb growth. There is considerable confusion regarding their classification and ascertainment into various syndromes. We tried to look into the various aspects of hemihyperplasia syndromes. METHODS: Records of 17 consecutive cases of hemihyperplasia were reviewed and were ascertained into ...
Relevancy Score: Relevancy Score: 221
Higurashi M - - 1990
The results of a survey of the birth prevalence of congenital anomalies among 27,472 consecutive newborn babies at a large maternity hospital in Tokyo are reported. There were 29 cases with trisomy-21; 5 cases with trisomy-13 syndrome; 5 with trisomy-18 syndrome; 2 with cri-du-chat syndrome; and one each with partial ...
Relevancy Score: Relevancy Score: 214
Higurashi M - - 1980
A survey of the birth prevalence of congenital anomalies among newborn infants in Japan is under way at a large maternity hospital in Tokyo. Of 14,430 consecutive newborn babies (7,455 M; 6,975 F), 33 had a multiple congenital anomalies (MCA) syndrome. These included 2 with trisomy 13 (including a mosaic), ...
Relevancy Score: Relevancy Score: 212
Jacobs E M - - 2000
A 30-year-old Turkish woman suffered from pain in the right upper abdomen during the 32nd week of her third pregnancy. On ultrasound a liver tumour was diagnosed. The patient was followed without treatment during pregnancy. The outcome of the pregnancy was uncomplicated. The diagnosis of focal nodular hyperplasia was made ...
Relevancy Score: Relevancy Score: 209
Thong M K - - 1999
Although the clinical delineation of the majority of overgrowth syndromes is straightforward, we believe there is a subset of patients with overlapping features from a number of overgrowth syndromes. We report a patient with hemimegalencephaly, hemihypertrophy, macrocephaly, vascular lesions, psychomotor retardation and intestinal lymphangiectasia. The clinical history and findings posed ...
Relevancy Score: Relevancy Score: 202
Guermazi A - - 2000
Disorders of the choroid plexus, a central nervous system structure, are rare, but can pose diagnostic difficulties. The purpose of this review is to illustrate the computed tomography and magnetic resonance imaging findings of a wide spectrum of lesions that affect the choroid plexus. The areas covered include (1) neoplasms ...
Relevancy Score: Relevancy Score: 199
Akyüz C - - 1997
Vascular lesions in childhood are classified as vascular malformations and hemangiomas. Vascular malformations are congenital abnormalities thought to arise from defects during embryological development of vascular tissue. Hemangiomas are benign tumors of vascular endothelium and can spontaneously become involuted in almost all cases. One thousand one hundred and twenty-seven patients ...
Relevancy Score: Relevancy Score: 199
Matsumaru Y Y Service de Neuroradiologie Vasculaire diagnostique et thérapeutique, CHU de Bicêtre; Le Krernlin-Bicêtre, France - - - 1999
We describe 19 (16.0%) multiple vascular malformations (AVMs) in 119 spinal cord arteriovenous malformations (SCAVMs). The associated lesions were eight vertebral vascular malformations, two cutaneous, four limbs, four radicular AVMs, three bifocal SCAVMs; one patient had a bifocal cord lesion associated with vertebral and limb localisations. Various syndromic associations were ...
Relevancy Score: Relevancy Score: 197
Ziyeh S - - 2004
Klippel-Trenaunay and Parkes Weber (Klippel-Trenaunay-Weber) syndromes consist of vascular malformations of the capillary, venous and lymphatic systems combined with soft tissue and bone hypertrophy of the affected extremity. Klippel-Trenaunay syndrome is a pure low-flow condition, while Parkes Weber syndrome is characterized by significant arteriovenous fistulas. The distinction of both entities ...
Relevancy Score: Relevancy Score: 191
Kaise M - - 1992
Phacomatosis pigmentovascularis is a rare complex nevus accompanied with various types of developmental abnormalities. We experienced a case of phacomatosis pigmentovascularis with esophageal varices due to hypoplasia of the portal veins. Although computed tomography demonstrated marked atrophy of the right hepatic lobe and compensatory hypertrophy of the left hepatic lobe, ...
Relevancy Score: Relevancy Score: 191
Shirazi Farheen - - 2007
BACKGROUND: Vascular malformation signaling pathways are the least understood out of all cutaneous endothelial lesions. The overexpression of Akt is known to cause vascular malformations in endothelial cells of mice. Since there are no Akt inhibitors approved for clinical use, we examined phosphorylated S6 expression, a downstream target of Akt. ...
Relevancy Score: Relevancy Score: 187
Kluken N - - 1980
As is known, 1900 Klippel and Trenaunay summarized naevus teleangiectatisuc lateralis, vein ectasias and isolated gigantism to a triad. Seven years later Weber described the same syndrom adding the symptom of arterio-venous fistulas, that he clinically diagnosed. Some authors deduce from this symptomatology two syndroms ; on one hand the ...
Relevancy Score: Relevancy Score: 185
Osebold W R - - 1992
Ninety-two patients (71 idiopathic, 15 neurogenic, 2 Marfan's syndrome, 1 Down's syndrome, 1 osteogenesis imperfecta, 1 Prader-Willi syndrome, 1 Klippel-Trenaunay-Weber syndrome), ages 9-49 years, had posterior spine fusion and stabilization with Luque L-rods and sublaminar segmental wires (SSI) for progressive scoliosis. There were no neurologic complications. The average preoperative major ...
Relevancy Score: Relevancy Score: 165
Eibschitz-Tsimhoni Maya - - 2003
PURPOSE: Posterior sclerotomy has been recommended for prevention of intraoperative choroidal hemorrhages and choroidal effusions in patients with Sturge-Weber syndrome (SWS) or Klippel-Trenaunay-Weber (KTW) syndrome undergoing glaucoma filtering surgery. In this study, we evaluated this unproven clinical perception. DESIGN: A retrospective, noncomparative, case series. PARTICIPANTS: Seventeen consecutive patients with SWS ...
Relevancy Score: Relevancy Score: 164
Bell Diana - - 2007
Varicose veins in the vulvar and perivulvar area are seen in 4% of women. Most of them are secondary to pregnancy and usually regress spontaneously. Vulvar varicose veins are rare in nonpregnant women. When present, they can be seen alone, associated with leg varices or associated with venous malformations of ...
Relevancy Score: Relevancy Score: 164
Gordeeff A - - 1986
As reported by Gorlin, Pindborg and Cohen, hemifacial hypertrophy is not an affection sui generis, but one that presents different aspects and is of varied etiology. The presence of a tumor must be excluded initially. The hemifacial lesion may be congenital, and form part of a diffuse affection involving the ...
Relevancy Score: Relevancy Score: 161
Amanuel B - - 2000
OBJECTIVE: To determine whether there are specific situations which may increase the risk of accidental asphyxia during sleep in children with physical and mental disabilities. METHODOLOGY: Review of all cases where death was attributed to accidental asphyxia caused by unsafe sleeping situations in children listed in the Department of Histopathology ...
Relevancy Score: Relevancy Score: 161
Oshima H - - 2002
PURPOSE: To describe the gray-scale and color Doppler ultrasound imaging features of vascular canals in human femoral condylar epiphysis. MATERIAL AND METHODS: Vascular canals in the femoral condylar epiphysis were examined using gray-scale and Doppler US. The study was performed in 45 volunteers (aged <1 month-72 years) who comprised 1 ...
Relevancy Score: Relevancy Score: 161
Saunders N - - 1990
A case of progressive congenital hypertrophy of the feet was presented. From a diagnostic standpoint, this case was extremely challenging. Local gigantism was excluded from the diagnosis because the deformity was localized to both feet, with all components showing a concomitant increase in size. Furthermore, there was no evidence of ...
Relevancy Score: Relevancy Score: 161
Astle William F - - 2006
PURPOSE: To report the visual, refractive, and functional outcomes of photorefractive keratectomy (PRK) and of laser-assisted subepithelial keratectomy in a group of children with significant refractive error and underlying medical conditions or ocular pathology who were noncompliant with traditional management. SETTING: Nonhospital surgical facility and a hospital clinic. METHODS: This ...
Relevancy Score: Relevancy Score: 156
Lezama-del Valle P - - 1998
BACKGROUND: To the authors' knowledge there are few published series of malignant vascular tumors in patients age < or = 21 years. METHODS: The authors retrospectively documented the clinical presentation, pathology, treatment, and outcome of patients age < or = 21 years with malignant vascular tumors treated between 1970-1995 at ...
Relevancy Score: Relevancy Score: 156
Biazzo A - - 2013
The lipofibrohamartoma is a rare entity of unknown origin that can affect any peripheral nerves, but mainly being found in the median nerve within the carpal tunnel. The lipofibrohamartoma is frequently associated with other conditions such as macrodactyly, the Proteus and Klippel-Trenaunay-Weber syndromes and multiple exostosis, among others. Two cases ...
Relevancy Score: Relevancy Score: 155
Maniar S - - 2011
The hemihypertrophy or hemihyperplasy is a rare congenital abnormality, characterized by an asymmetric growth of the limbs, the trunk, and the face or half of the entire body. It may be isolated or be part of several syndromes including Beckwith-Wiedemann syndrome, Klippel-Trenaunay-Weber syndrome, Silver-Russell syndrome and Proteus syndrome. In its ...
Relevancy Score: Relevancy Score: 144
Stoll Claude - - 2010
Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, ...
Relevancy Score: Relevancy Score: 142
Grotemeyer Dirk - - 2009
PURPOSE: Visceral artery aneurysms (VAA) are rare forms of vascular pathology, with an incidence of 0.1% to 0.2% in routine autopsies. They frequently present as a life-threatening, often fatal, emergency, if associated with rupture and intra- or retroperitoneal bleeding. The clinical symptoms, natural history, and mortality of VAAs vary depending ...
Relevancy Score: Relevancy Score: 120
Furukawa T - - 1977
Relevancy Score: Relevancy Score: 117
Fujita M - - 1996
Relevancy Score: Relevancy Score: 116
Nureev G G - - 1975
Relevancy Score: Relevancy Score: 116
Barber P - - 1988
Relevancy Score: Relevancy Score: 116
Howlett D C - - 1993
Relevancy Score: Relevancy Score: 116
Zabel J - - 1978
Relevancy Score: Relevancy Score: 115
Groeneweg D A - - 1987
Relevancy Score: Relevancy Score: 114
Chhajed Monika - - 2010
Klippel-Trenaunay syndrome and Sturge-Weber syndrome are rare disorders with neurologic and cutaneous signs of vascular origin. Phakomatosis pigmentovascularis represents the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. We describe a case with features suggestive of overlap between them. A ten-month-old boy presented with seizures, developmental delay, ...
Relevancy Score: Relevancy Score: 112
Güngor Gündoğan Tuğba - - 2010
Klippel-Trenaunay syndrome is a rare congenital vascular disorder, and only few cases have been described in pregnancy. We describe two cases, in one patient without complications, the other patient developed postpartum deep venous thrombosis.
Relevancy Score: Relevancy Score: 106
Ring D S - - 1992
Relevancy Score: Relevancy Score: 105
Cohen M M MM - - 2000
Relevancy Score: Relevancy Score: 104
Gaja A - - 1983
Relevancy Score: Relevancy Score: 104
Buanes T - - 1980
Relevancy Score: Relevancy Score: 104
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