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Kaufmann K - - 1997
Apert Syndrome is characterized by craniosynostosis, bilateral syndactyly, and midfacial hypoplasia. Although it was first described by Wheaton in 1894, it was first diagnosed prenatally only a decade ago-with only five cases reported in the literature. A sixth case is reported here. Prenatal diagnosis of Apert syndrome is reviewed.
Dabrowski G P - - 1997
Takayasu's arteritis, also known as pulseless disease, is an unusual cause of symptomatic peripheral vascular disease. It was first reported in 1908 by a Japanese ophthalmologist who described retinal arteriovenous shunts which appeared in a wreath-like distribution around the optic disc and microaneurysms of the retinal vessels in a 19-year-old ...
Ramina R - - 1997
OBJECTIVE AND IMPORTANCE: Our objective was to study the diagnosis and management of this rare condition. A review of the literature concerning chondrosarcomas related to Maffucci's syndrome is reported. Cause and management are discussed. CLINICAL PRESENTATION: We report a case of Maffucci's syndrome associated with a cranial base chondrosarcoma. To ...
Blackburn W D WD - - 1997
The term eosinophilia myalgia syndrome (EMS) was coined in 1989 after a cluster of cases with symptoms of incapacitating myalgias and eosinophilia were reported. This syndrome has been only defined as varying degrees of myalgias and peripheral eosinophilia. Case reports of EMS are protean and do not show a consistent ...
Cullen A - - 1997
The Marshall-Smith syndrome is characterised by a triad of facial dysmorphism, failure to thrive and accelerated osseous maturation. We report a further case of this rare syndrome with the unusual but previously reported complication of laryngeal hypoplasia and review the associated laryngeal anomalies that have been reported to date. Severe ...
Grateau G - - 1997
We report nine cases of haemophagocytic syndrome (HS) in patients with human immunodeficiency virus infection, and review the 17 cases described to date in the literature. In 21 of 26 cases, HS developed during an advanced stage of immunodeficiency. Clinical and haematological signs are not specific in this setting, and ...
Stern J S - - 1997
Coincident cases of Tourette syndrome and Pervasive Developmental Disorders increasingly have been reported in the literature. Coincident cases currently number around 90. A minority of cases have been associated with cases of Tourette syndrome and tics in other family members; this has led some authors to suggest that Tourette syndrome ...
Chan P S - - 1997
The authors present a case of a lower leg compartment syndrome that developed after a regional chemotherapy technique was used for recurrent melanoma of the foot in a 74-year-old woman. The diagnosis was based on the results of physical examination, with confirmation by intracompartmental pressures. Prompt consultation of orthopedic surgeons ...
Goh K Y - - 1997
Cloverleaf skull or kleeblattschadel usually occurs as a result of premature closure of the cranial sutures, with accompanying hydrocephalus, proptosis, cranial base and midface hypoplasia. The incidence of this abnormality is rare, with less than 130 reported cases in the literature, and is associated with various congenital syndromes. Conventional surgical ...
Garcia-Cruz D - - 1997
The hypertrichosis and osteochondrodysplasia syndrome is a rare entity with clinical findings including macrosomia at birth cardiomegaly. Autosomal recessive inheritance is presumed based on the report of two affected sibs born to healthy parents. Here we report on four new patients with their follow-up data, as well as on one ...
El Aun M - - 1997
We report a case of a child with symptoms and signs of Bartter's syndrome and nephrocalcinosis. This report discusses the manifestations and management of this rare disease at a very early age.
Dhodapkar K M KM Department of Pediatric and Adolescent Medicine, Mayo Clinic Rochester, MN 55905, - - 1996
In this article, we report a case of Leuconostoc bacteremia in a 7-month-old infant who had short-gut syndrome after a gastroschisis repair and who was dependent on total parenteral nutrition through a central venous catheter. The organism was initially misidentified as viridans group streptococcus. Detection of vancomycin resistance led to ...
Amoah G B - - 1996
Landry-Guillain-Barre-Strohl Syndrome (LGBS) is a rare occurrence in pregnancy with only 38 previously reported cases in the literature. A case of a 26 year old Ghanaian woman who presented at thirty weeks gestation with limb weakness, facial diplegia, dysarthria, dysphagia and CSF cytoalbuminic dissociation and who made complete recovery before ...
Akers D L DL - - 1996
Iliac vein compression syndrome is a clinical condition that occurs as a result of compression of the left iliac vein between the right iliac artery and the fifth lumbar vertebrae. Patients usually have marked edema of the left leg. We report a case of a 16-year-old man who sought medical ...
Prasad R A - - 1996
Alport's syndrome (hereditary nephritis with deafness), is an uncommon disease and is seen very infrequently in India. We report a fatal case in a young girl with characteristic ultrastructural changes in the kidney thus emphasising the exception noted in the observation that females have a better prognosis compared to males.
Jan J S - - 1996
Hepatopulmonary syndrome (HPS) is the triad of liver disease, pulmonary vascular dilatation, and abnormal arterial oxygenation. We report a case with progressive orthodeoxia and platypnea who was proven to have HPS after serial investigations, including autopsy. This 61-year-old male is a case of alcoholic liver cirrhosis without any documented cardiopulmonary ...
Lowe P M - - 1996
A case of pemphigoid gestationis occurring in a 40 year old female who developed HELLP syndrome during her fourth pregnancy is reported. Seven days after emergency Caesarean section for pre-eclampsia, she developed a pruritic blistering eruption which clinically resembled pemphigoid gestationis. The diagnosis was supported by skin histology and immunofluorescence. ...
Sukumar S - - 1996
Although Gerstmann's syndrome has been well documented since it was characterised in the latter half of last century, there has not been much literature on it in the last few years. We present a classical case in a patient who was admitted into hospital for an unrelated problem. We conclude ...
Gütling E - - 1996
We investigated five patients with a locked-in-syndrome (LIS) and reported the clinical, electrophysiologic, neuroradiologic, and neuropathologic findings. EEG reactivity was present in two and absent in three cases. Somatosensory evoked potentials (SEP) varied from unilaterally normal to bilaterally absent. We conclude that there is no specific pattern of SEP abnormality ...
Seker B - - 1996
We report a trichobezoar extending from the stomach through the entire length of the small intestine to the caecum. A case history of a 6-year-old girl with trichobezoar is described. She is the ninth patient with Rapunzel syndrome in the literature. The epidemiology, clinical features, complications, treatment and literature are ...
Leonard A - - 1996
Two children who had the Rothmund-Thomson syndrome and developed osteosarcoma are reported. The 10 previously reported cases are reviewed. The osteosarcomas developed at a younger age than normally expected and 66% occurred in the tibia/fibula. Four of the five patients for whom information was available showed undue sensitivity to cancer ...
Meese M A - - 1996
Periostitis in the athlete is a common overuse clinical entity often found in the lower extremity. An analogous overuse syndrome also may occur in the upper extremity. These 2 case reports describe the history, physical findings, radiographic changes, and treatment for periostitis of the upper extremity rarely seen in the ...
Witzum E - - 1996
BACKGROUND: Stress has been associated with the course of Tourette's syndrome (TS). METHODS: The case report presented aims to emphasize the effect a severe traumatic experience has on the expression of TS. RESULTS: Following an intense traumatic experience, combat-related, a relatively mild case of TS became intractable. CONCLUSION: The combination ...
Ala-Mello S - - 1996
A 6-year-old boy with the Floating-Harbor syndrome (F-HS) is described. We propose that his exceptionally high-pitched voice and supernumerary upper incisor are additional diagnostic signs of F-HS. The elevated gliadin antibody levels suggest coeliac disease, which has been described in three out of the 15 previously reported F-HS patients. His ...
Wygnanski T - - 1996
We present the case of an aviator with Kleine Levin syndrome (KLS). History, physical examination, and special studies presented confirm the diagnosis of this syndrome. Our patient presented as an atypical case of KLS with respect to the presenting symptoms and to frequency of the episodes (6 years apart). He ...
Schepis C - - 1996
We describe two boys affected by Down syndrome (DS), who showed milia-like idiopathic calcinosis cutis (MICC). The clinical diagnosis was confirmed by histological examination. All reported cases are reviewed and compared. Syringeal structures play a significant part in the pathogenesis of this dermatosis. MICC appears to be a poorly recognized ...
LevGur M - - 1995
OBJECTIVE: To review the literature regarding the association of erythrocytosis and uterine myomas, because of the lack of anemia in many women with menorrhagia and fibroids. DATA SOURCES: We searched the MEDLINE English-language data base and reference lists to find articles referring to the myomatous erythrocytosis syndrome. METHODS OF STUDY ...
Timmerman D - - 1995
Two cases of Meigs' syndrome in association with elevated serum CA 125 levels are reported. The significance of Meigs' syndrome lies in the fact that neither ascites nor pleural effusion is necessarily an ominous sign in women with a pelvic tumor. Although there is a strong correlation between ovarian malignancy ...
Cruz O A - - 1995
The authors present a case report of Duane retraction syndrome (DRS) associated with Rubinstein-Taybi syndrome (RTS). RTS is a multisystem condition characterized by psychomotor developmental delay, broad thumbs and great toes, short stature, and characteristic facies with a beaked nose. DRS is an ocular disorder characterized by retraction of the ...
Henderson M A - - 1995
The mucopolysaccharidoses are a rare group of diseases. The Hunter Syndrome (mucopolysaccharidosis II) has been classified into severe and mild forms with presentation between the years 2 and 4. Enzyme assays provide the definitive diagnosis. An outstanding concern for the anaesthetist is airway management. The management of a patient with ...
Lin S Y - - 1995
The congenital tracheal cartilaginous sleeve (TCS) results from a vertical fusion of the tracheal cartilages. This rare malformation is usually associated with one of the craniosynostosis syndromes, such as Crouzon's disease, Pfeiffer's syndrome, or Goldenhar's syndrome. Three new cases of TCS are reported, two with autopsy findings including the histopathology ...
Yagihashi N - - 1995
Two necropsy cases of Down syndrome are reported. These showed transient abnormal myelopoiesis accompanying characteristic hepatic sinusoidal fibrosis. Numerous megakaryocytes were found in the liver of one case, but not in the other. Only eight cases of Down syndrome with simultaneous occurrence of hepatic fibrosis and transient abnormal myelopoiesis have ...
Adès L C - - 1995
We describe 4 girls with Shprintzen-Goldberg syndrome. Skeletal abnormalities common to 3 of them include bowing of long bones (with a variable degree of progression over time), flare of the metaphyses, a large anterior fontanel with persistent patency into the second to fourth years of life, 13 pairs of ribs, ...
Can I - - 1995
This article reports on an acquired Brown's syndrome case presenting with cyclic characteristics. Restriction of elevation in adduction was observed in the right eye of a 15-year-old boy who had been referred with a complaint of diplopia that occurred on waking in the morning and continuing until noon. The same ...
Engelhard H H - - 1995
BACKGROUND: The Dandy-Walker syndrome and Dandy-Walker variant usually present as isolated cases of hydrocephalus in pediatric patients. METHODS AND RESULTS: THis paper consists of a case report of the adult onset of symptoms in two sisters having Dandy-Walker variant. Such an occurrence has never before been reported in the medical ...
Güvenç M - - 1995
The authors report on a female newborn with prune-belly syndrome (PBS) in association with omphalocele. This case raises the total of omphalocele associated with PBS to seven. The authors suggest that this case lends support to the concept of PBS being caused by an early disturbance of mesodermal development in ...
Baty V V Department of Infectious Diseases, Nancy University Medical Center, - - 1995
Schnitzler's syndrome is a combination of chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, increased erythrocyte sedimentation rate, and macroglobulinemia. Since it was first described in 1974, only 26 cases have been published in the literature. In this report, we describe two additional cases and review the clinical ...
Kulisevsky J - - 1995
We report the case of a 69-year-old man with severe Tourette's syndrome (TS) who underwent a bilateral prefrontal leucotomy at the age of 29 years to alleviate coprolalia, copropraxia, and obsessive-compulsive disorder. No improvement was observed during the 5 years after the leucotomy. Tics and associated behavioral abnormalities disappeared thereafter, ...
Johnson I J - - 1995
A case of bilateral Auriculotemporal or Frey's syndrome in childhood is unique in the World literature. The clinical presentation and management is discussed. A conservative approach is advocated but other therapeutic options are considered. The literature is reviewed, only 17 cases all unilateral are known, and from the study the ...
Allen A J - - 1995
A review of clinical observations and literature reports leads to the hypothesis that, via a process analogous to Sydenham's chorea, infections with group A beta-hemolytic streptococci, among others, may trigger autoimmune responses that cause or exacerbate some cases of childhood-onset obsessive-compulsive disorder (OCD) or tic disorders (including Tourette's syndrome). If ...
Yamamoto H - - 1995
Reports of Parkes-Weber syndrome complicated by disseminated intravascular coagulation (DIC) are rare in the orthopaedic literature. This is a case report of a 23-year-old man who had this syndrome and who sustained a lower-leg fracture complicated by the DIC. Open reduction was not attempted because the DIC worsened after manual ...
Cavatorta F - - 1995
We report the case of a patient with Takayasu's arteritis, nephrotic syndrome, and pANCA. The kidney biopsy specimen showed the classic features of IgA nephropathy. The course of this patient supports the view that the glomerular and vasculitic involvements of Takayasu's arteritis may result from a common immunologic mechanism, and ...
Goto A - - 1995
One hundred and ten cases of Cronkhite-Canada Syndrome (C-C-S) reported in Japan were reviewed in this epidemiologic study. Seventy-five percent of all C-C-S cases reported in the world in literature have been reported from Japan. There has been no special occupation associated with an increased incidence of C-C-S. Mental and ...
Reardon W - - 1995
Dermatosparaxis (Ehlers-Danlos syndrome type VIIC) has only recently been identified in human subjects. Although well documented in animals, to date only three human cases have been recorded, all aged 2 years or under. We document a 15-year-old girl with this newly recognized condition to emphasize the remarkable similarity of physical ...
Khatri V P - - 1995
Hypercoagulability is a recognized complication of the nephrotic syndrome which commonly affects the venous system. Arterial thrombosis is very rare. Multiple factors contribute to the predisposition to thromboembolism in this condition. This report deals with a case of femoral artery thrombosis which responded well to thrombectomy and a short course ...
Gilaberte Y - - 1995
Stiff skin syndrome (SSS) is a rare disorder characterized by stony-hard skin, limited joint mobility and mild hypertrichosis. We present a severe case in a 4-year-old boy. In addition to the clinical and histological features of SSS, our patient also had muscle and bone involvement along with pyloric stenosis, gastro-esophageal ...
Odukoya O - - 1994
Two cases of orofacial granulomatosis are reported. One case is that of a 24-year-old Nigerian female, who presented with a complete form of Melkersson-Rosenthal syndrome. The second case is that of a 32-year-old Nigerian male who presented with a form of orofacial granulomatosis which is consistent with Miescher's cheilitis granulomatosa, ...
Maggioni F - - 1994
A case of type I Arnold-Chiari malformation, with onset of diplopia, without associated medullar alteration, is presented. The symptomatology remained unique and had transitory presentation for many years with negative ophthalmic examinations. Attention is drawn to the great variability of the syndrome's presenting symptoms confirming the importance of MR in ...
Turner J S JS Surgical Intensive Care Unit, University of Cape - - 1994
We report 3 cases of severe adult respiratory distress syndrome. The patients were very difficult to oxygenate, even with the most advanced conventional mechanical ventilation techniques. In all cases oxygenation improved dramatically when the patient was turned to the prone position. Reports of the use of the prone position for ...
Martínez-Frías M L - - 1994
We have studied 9 cases with the combination of some form of holoprosencephaly and any degree of caudal dysgenesis. The cases were identified through the Spanish Collaborative Study of Congenital Malformations (ECEMC). Of the 9 cases, 6 infants had an aneuploidy syndrome, one had Meckel syndrome, and 2 cases were ...
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