Search Results
Results 351 - 400 of 557
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Hallett K B - - 1995
A case of a young male with the Klippel-Trénaunay-Weber syndrome is described. Typical features of hemihypertrophy, hemangiomata, macrodactyly, and macrocephaly were present. The most striking oral feature was generalized severe gingival hypertrophy confirmed histologically, ultrastructurally, and by collagen analysis. In the absence of other known systemic causes of gingival enlargement, ...
Ohlemiller K K - - 1995
A number of autosomal recessive syndromes feature both sensorineural hearing loss and retinal degeneration. The mouse mutant tubby also combines hearing loss with progressive retinal degeneration, and thus may constitute a useful model of one form of human sensorineural deafness/retinal dystrophic syndrome. It has not been directly demonstrated that the ...
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 ...
Pollack R N - - 1995
A primigravida with the Klippel-Trenaunay syndrome was admitted to the hospital at 34 weeks' gestation with a complaint of right calf pain. Superficial thrombophlebitis was diagnosed, and she was treated with compresses and analgesia. Speculum examination failed to reveal the presence of lower genitourinary tract arteriovenous malformations. Color flow mapping ...
Carter D A - - 1995
BACKGROUND: Myelopathy in Klippel-Trenaunay-Weber syndrome is uncommon but has been reported secondary to spinal vascular malformations. REPORT: A patient with Klippel-Trenaunay-Weber syndrome who presented with spinal cord compression from a spinal extradural mass lesion (angiomyolipoma) is described. DISCUSSION: This association has not been reported previously but is consistent with the ...
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 ...
Riss J M - - 1995
The authors examined the clinicopathologic features of a 4-year-old boy with a diffuse choroidal hemangioma, yet without any features of the Sturge-Weber syndrome. The tumor occurred as a grayish intraocular mass with an overlying retinal detachment and was highly reflective in the ultrasonic examination. After contrast, the CT scan revealed ...
Varma S - - 1995
A 20 year-old patient presented with schizophrenia which was associated with Klippel-Feil syndrome and flat foot.
Jorgenson R J - - 1994
The Klippel-Trenaunay-Weber syndrome is a complex developmental disorder of the vascular and skeletal systems. While many features of the syndrome are congenital, it has not been diagnosed often before birth. This paper describes a case of Klippel-Trenaunay-Weber syndrome diagnosed at 19 weeks' gestation on the basis of sonographic findings and ...
Yamazaki M - - 1994
A 31-year-old woman presented with hypertrophy of the left upper extremity and thrombocytopenia. Physical examination revealed splenomegaly, and laboratory investigation revealed thrombocytopenia, elevation of cross-linked fibrin degradation products (XDP), and thrombin-antithrombin III complex (TAT). A diagnosis of Klippel-Trenaunay-Weber (K-T-W) syndrome was established by the dermatologic findings and angiography of the ...
Roebuck D J - - 1994
The Klippel-Trenaunay syndrome is a rare mesodermal abnormality causing venous anomalies, cutaneous capillary naevi with bone and soft tissue hypertrophy of one or more limbs. In this pictorial review we illustrate the plain film, venographic, ultrasound and magnetic resonance imaging features of Klippel-Trenaunay syndrome affecting the lower limb.
Huang W J - - 1994
Klippel-Trenaunay-Weber syndrome is characterized by limb hypertrophy, varicose veins, and vascular nevus. The orofacial manifestations include early eruption of permanent teeth and hemifacial hypertrophy. This 5-year-old male patient had facial asymmetry, limb abnormalities, and a thumb-sucking habit. Cephalometric analysis revealed a Class II open bite occlusion.
Baráth B - - 1994
We describe a 23-year-old girl with an extremely uncommon form of cerebral venous drainage and cerebellar leptomeningeal angiomatosis as a possible variant of the Sturge-Weber syndrome. Extensive congenital port-wine stains all over the body, hypoplastic left renal and subclavian and iliac veins, cardiomegaly and ptosis and hypoplasia of the left ...
Erdem E - - 1994
Pathological intracranial calcifications detected on computed tomography of 83 children during a six-year period were reviewed. The common causes in our series were tuberous sclerosis and intracranial tumors. Other conditions associated with calcification were Sturge-Weber syndrome, neurofibromatosis, Cockayne's syndrome, hypoparathyroidism, arteriovenous malformations, vein of Galen aneurysm, encephalomalacia, cerebral infarcts, subdural ...
Clarke R A - - 1994
We report a case of a 45-year-old man with Klippel-Feil syndrome with fusion of the C2-3 and C4-5 cervical vertebrae and severe voice impairment associated with malformation of the laryngeal cartilages. The condition was also complicated by bilateral inflexibility of the arms and legs and external malformation of the ears. ...
Batra R K - - 1994
We report a series of 13 patients with Sturge-Weber syndrome anaesthetised on 17 occasions. Anaesthesia management varied depending on the clinical manifestations which ranged from localized, superficial skin lesions to extensive systemic involvement. These patients tolerate anaesthesia well but anaesthetic management includes evaluation for associated anomalies. Difficulty with intubation may ...
Fligelstone L J - - 1994
The Klippel-Trenaunay syndrome is a rare disorder in which the congenital vascular anomalies can affect the urogenital tract. Several cases of hemorrhage from the urogenital system have been reported in children with this condition. We report an upper renal tract hemorrhage in an adult, which required nephrectomy. To our knowledge ...
Seynaeve H - - 1994
The association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) is known as Wolfram syndrome. The ophthalmic signs are progressive decrease in visual acuity, constriction of the peripheral visual field with or without central scotoma, colour vision disturbances and bilateral optic disc atrophy. Diabetic retinopathy is a rare ...
Chigira M - - 1994
We describe a 53-year-old Japanese woman with absence of the posterior arch of the atlas. Computed tomography revealed that the residual posterior fragment which was displaced to the right side does not correspond to a rare ossification center in the midline and that there was no clear mass of the ...
Schilgen M - - 1994
Alcohol is the most frequent and most important teratogenic noxa for the embryo and fetus. It may lead to deformation of all cells and organs. A case of Klippel-Feil anomaly associated with fetal alcohol syndrome is described. The diagnosis of Klippel-Feil anomaly, even a late diagnosis made on the basis ...
Hamano K - - 1993
A case of Sturge-Weber syndrome with poor filling of the deep cerebral venous system is reported. Usually in this syndrome, enlargement of the internal cerebral, basal Rosenthal, deep medullary, and subependymal veins is revealed by angiography. The abnormality of the deep cerebral venous system in this case corresponded to diffuse ...
Kõse G - - 1993
An unusual case of cholelithiasis in an 18-month-old boy with cervico-oculo-acoustic (Wildervanck's) syndrome is presented. Our patient had Duane's retraction syndrome, Klippel-Feil anomaly and congenital deafness. To our knowledge this is the first case in which a probable association between cholelithiasis and Wildervanck's syndrome has been recorded. On the other ...
Nguyen V D - - 1993
Cervical spine radiographs of 33 patients with Klippel-Feil syndrome were studied for patterns of bony fusion and presence of wasp-waist sign. Five patients were found to have the classic features of massive cervical fusion. Two patients with two adjacent levels of bony fusion showed a wasp-waist sign. Fusion at one ...
Chang Y Y - - 1993
A 68-year-old man developed a sudden onset of the left Wallenberg's syndrome with additional left hypoglossal nerve palsy and contralateral hemiparesis sparing the face. The clinical constellation, known as Babinski-Nageotte syndrome, is regarded as a combination of the medial and lateral medullary syndrome. Magnetic resonance imaging showed potential of in ...
Takanashi J - - 1993
An 11-year-old girl with Down syndrome is reported with moyamoya syndrome; she presented with chorea and mental regression, but had no hemiplegia or convulsions. Magnetic resonance imaging and magnetic resonance angiography were valuable for diagnosis of moyamoya syndrome. It is suggested that moyamoya syndrome be considered as a possible cause ...
Küster W - - 1993
Neurocutaneous syndromes are disorders with cutaneous and neurologic anomalies. Some of these disorders are hereditary. This review summarizes the advances in this field and the recent results obtained in clinical and scientific research on the following syndromes: neurofibromatosis type 1, tuberous sclerosis, Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome), Sjögren-Larsson ...
al Deeb S M - - 1993
The case of a 42-year-old Sudanese man is reported who had developed hyperpigmentation of the left face and rapidly progressive right hemiparesis followed by myoclonus at the age of 30. Blue-grey hyperpigmentation was noted in the territory of the left ophthalmic, maxillary and mandibular trigeminal nerve branches, with alopecia of ...
Herd R M - - 1993
The linear pattern of lichen planus (LP) is extremely rare. In six publications 1256 patients with LP have been reviewed and only three cases of linear LP (LLP) are reported. The differential diagnosis of LLP includes a number of linear dermatoses in particular lichen striatus (LS) and the extent of ...
Miura H - - 1993
A case of Proteus syndrome in a 13-year-old boy with macrodactyly, hemihypertrophy, exostosis of the skull, epidermal naevi, palmar and plantar masses, and scoliosis is reported. Macrodactyly involving the left thumb was treated surgically. The usual findings in macrodactyly, hypertrophy of the digital nerves and proliferation of subcutaneous fat, were ...
Humphries J E - - 1993
BACKGROUND: The Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia) is an autosomal dominant disorder of blood vessels associated with mucocutaneous telangiectasis and arteriovenous malformations of internal organs. CASE: A 23-year-old woman was found on routine gynecologic examination to have asymptomatic vaginal telangiectasias, a previously unreported initial site of involvement in this syndrome. ...
Gilliam A C - - 1993
BACKGROUND: Phakomatosis pigmentovascularis type IIb is a syndrome in which extensive nevus flammeus is associated with persistent aberrant mongolian spots. Herein, we describe a patient with phakomatosis pigmentovascularis who had numerous iris mammillations that were initially mistaken for the Lisch nodules of neurofibromatosis type I. OBSERVATIONS: A 5-year-old girl with ...
Ueda M - - 1993
A 64-year-old woman with CREST syndrome developed prominent telangiectases mimicking hereditary hemorrhagic telangiectasia (HHT) of Osler-Rendu-Weber. We have been following her since she first came to us with discrete telangiectatic mats and Raynaud's phenomenon 11 years ago. Telangiectatic lesions have been seen on her larynx and esophagus in addition to ...
Del-Río E - - 1993
Arteriovenous malformations (AVM) are vascular anomalies containing a communication between an artery and a vein without an intervening capillary bed. In 1990, Klippel and Trenaunay reported a patient with limb overgrowth, cutaneous angiomata and varicose veins. In 1918, Parkes Weber mentioned the additional feature of AVM terming the condition 'hemangiectatic ...
McGrory B J - - 1993
Klippel-Trenaunay syndrome is a rare congenital malformation characterized by a large angiomatous nevus, hypertrophy of soft tissue and/or overgrowth of bone, and venous varicosities. Orthopaedic surgeons are often consulted about limb hypertrophy and associated leg-length inequality, associated finger and toe anomalies, or a myriad of associated rare skeletal abnormalities. Orthopaedists ...
Kankirawatana P - - 1993
The pathophysiology of Möbius syndrome has been debated for decades. A vascular etiology is currently favored because it explains the wide clinical spectrum of this syndrome. An infant is reported who was born with Möbius syndrome after a pregnancy complicated by heavy maternal use of cocaine and alcohol. We speculate ...
Joshi M - - 1992
Klippel-Trenaunay (KT) syndrome is a rare, sporadic, congenital vascular disease of unknown etiology. We describe pulmonary findings in an 18-year-old male patient followed up since birth with the KT syndrome. The patient developed pleural and pericardial serous effusions that led to an open lung biopsy. Previous pulmonary findings have been ...
Gupte G - - 1992
Wildervanck syndrome i.e. cervico (Klippel-Feil anomalad) -oculo (Duane-Stilling-Turk phenomenon with bilateral abducens palsy)-acoustic (deafness) is a rare syndrome. We report here 4 cases diagnosed as Wildervanck syndrome and analyse their findings. One patient had an an atrial septal defect. Such association of congenital heart disease with Wildervanck syndrome has not ...
Johnson M C - - 1992
Klippel-Feil syndrome in its most basic definition includes several anomalous conditions of the cervicomedullary junction and suboccipital region. Pediatric neurosurgeons are often involved in surgical palliation of this syndrome, without realizing how the accompanying anomalies may obfuscate management in the older child. A brief review of the embryology of the ...
Barrera P - - 1992
A case of recurrent reflex sympathetic dystrophy syndrome (RSDS), involving consecutively three extremities in an otherwise healthy adult is described. In a period of four years follow-up she presented three RSDS episodes occurring without precipitating events and involving consecutively both lower legs and the left hand. The RSDS resolved without ...
Greipp M E - - 1992
Nurses working with orthopaedic clients and pediatric populations may be the first to recognize the classic triad of Klippel-Feil syndrome: short neck, limitation of neck motion, and low occipital hairline. Klippel-Feil syndrome is a congenital malformation of the cervical vertebrae, with limited treatment options. Client/family education is vital to monitor ...
Hagari Y - - 1992
This is the first report of a Japanese girl with Proteus syndrome. She presented with growth acceleration and precocious development of the left breast as well as macrodactyly, hemihypertrophy, a subcutaneous preaxillary mass, portwine stains, connective tissue nevi, and a depigmented macule. All these abnormalities were confined to the left ...
McCall S - - 1992
We have studied three children with cutaneous (epidermal nevi), subcutaneous (lipomas, plantar skin thickening), vascular (hemangioma, lymphangioma), skeletal (osteoma, exostosis, localized hypertrophy), and neurological (hydrocephaly, lissencephaly, partial agenesis of the corpus callosum) developmental defects associated with the Proteus syndrome and related hamartoneoplastic conditions. We compared our findings in these three ...
Smith B A - - 1992
Klippel-Feil syndrome is characterized by congenital fusion of two or more cervical vertebrae and may be associated with other organ system anomalies. Although many congenital anomalies are of little clinical importance to the emergency physician, Klippel-Feil syndrome is associated with both spontaneous and progressive neurologic sequelae as well as a ...
Filatov V - - 1992
A moderately retarded institutionalized patient diagnosed with Sturge-Weber syndrome and bilateral retinitis pigmentosa underwent enucleation OD because of intractable pain secondary to glaucoma in 1965. Twenty-three years later, the patient had a dislocated lens OS. Although the lens dislocation might have been caused by trauma, it also might be associated ...
Gluck G S - - 1992
The Klippel-Feil anomaly is usually discovered by serendipity on cervical spine X-rays. Although it may encompass many vertebrae, the typical case is an isolated fusion of two vertebrae. Nearly 1% of the general population has this anomaly and its incidence in the Navy is likely similar. Increased susceptibility to spinal ...
Beals R K - - 1992
A syndrome of capillary hemangiomas of the lower limbs associated with decreased circumference and length of the limb is reported. Hypotrophy of the limb in this syndrome is slowly progressive and surgery is usually required to achieve limb-length equalization. This syndrome is to be distinguished from the more common Klippel-Trenaunay-Weber ...
Illum N - - 1992
A one-year-old child had hypertrophy of the left leg and an unusual constellation of a naevus flammeus and superficial enlarged veins of the trunk together with successive appearance and involution since birth of numerous nodular elements located in the naevus and in the surrounding normal skin. Microscopic examination of these ...
Okano S - - 1992
We report a 10-year-old Down syndrome patient who developed dystonia, choreoathetosis, dysarthria, and dysphagia beginning with hemiparesis. Cranial computed tomography disclosed bilateral calcification in the globus pallidus which resembled a sign of premature aging. Conversely, the clinical course and magnetic resonance imaging findings resembled those of Hallervorden-Spatz syndrome.
Strübbe E H - - 1992
In 96 patients with congenital absence of the uterus and upper vagina, the Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, it proved possible to distinguish between the typical and the atypical form using laparoscopy. The typical form was characterized by symmetrical nonfunctioning muscular buds (the Müllerian duct remnants) and normal fallopian tubes, and the ...
Wilms G - - 1992
Two cases of tuberous sclerosis are presented. Extensive superficial occipital calcifications were found as classically described in Sturge-Weber syndrome. Other radiologic signs of tuberous sclerosis, such as subependymal calcifications in both patients and surgically proved giant cell astrocytoma in one patient, were present. At pathologic examination, the calcifications appeared to ...
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