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.

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.

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 ...

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 ...

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. ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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. ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

Ocular fundus abnormalities associated with the Klippel-Trenaunay-Weber syndrome are uncommon and include retinal vascular tortuosity and diffuse choroidal hemangioma. A case involving a young girl with Klippel-Trenaunay-Weber syndrome who had unusual bilateral, exudative, outer retinal vascular masses involving the peripheral fundus in one eye and the foveal area in the ...

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 ...

This report describes the intracranial CT and MR findings in two cases of Klippel-Trenaunay-Weber Syndrome. The findings are 1) markedly enhancing choroid plexuses, 2) severe cerebral atrophy, 3) cerebral calcifications, and 4) angiomatous leptomeningeal enhancement. The findings may resemble those seen in cases of bilateral Sturge-Weber syndrome. The two diseases ...

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 ...

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.

After commenting briefly on the literature on Fahr syndrome, we describe a patient with an unusual association of cerebral calcifications and motoneuron disease. We discuss the possible role of brain calcifications in the clinical picture and stress the importance of the routine use of CT scanning and MRI to show ...

Klippel-Trenaunay syndrome is a rare congenital malformation characterized by a large angiomatous nevus; hypertrophy of soft tissue or overgrowth of bone, or both; and venous varicosities. The cases of 108 patients who had a diagnosis of this syndrome between 1956 and 1990 were reviewed. One hundred and twenty-six anomalies were ...

A case of mucosal prolapse syndrome in the rectum is reported. A 61-year-old female presented complaining of bloody discharge and constipation for 2 months. Colonoscopy revealed an elevated lesion on the left anterior wall of the rectal canal. Biopsy showed glandular proliferation and fibromuscular obliteration of the lamina propria, findings ...

We present a male infant with cranial hemi-hypertrophy, a lymphangioma, a lipoma, and epidermal naevi. A diagnosis of Proteus syndrome was made. His father had had a large lymphangioma resected from the right side of the face as a child. We propose that Proteus syndrome has been transmitted from father ...

The authors report a case of cerebral aneurysm in an 8-year-old boy with Klippel-Trenaunay-Weber syndrome. This syndrome is a type of neurocutaneous disorder characterized by skin hemangiomas and hypertrophy of soft tissues and/or osseous structures in the involved region. Spinal hemangioma is occasionally found in this syndrome and may cause ...

The Kasabach-Merritt syndrome is characterized by thrombocytopenia and localized coagulopathy associated with a hemangioma. Most techniques applied to eradicate the tumor or accelerate its involution (surgery, radiation therapy, embolization) are invasive and require transfusion of large amounts of blood products. In some cases, medical treatment is the only alternative. Efficacy ...

A patient who developed a unilateral opercular syndrome following a cerebrovascular accident is described. Computed tomography showed that the lesion did not affect the opercular cortex, but involved deep white matter and the head of the caudate nucleus of the left hemisphere. Persistent hypophonia and transient aphasia were associated. Comparison ...

The present study describes a patient, aged 72 yrs, with pontine crossed syndrome, displaying ipsilateral to the lesion a syndrome of cranial nerves V, VI, VII, VIII, on the right; a right neocerebellar syndrome; anhidrosis in the right hemibody; contralateral to the lesion: thermoalgic anesthesia with hyperhidrosis in the left ...