Search Results
Results 451 - 500 of 978
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Hashimoto I - - 1999
Dystrophic forms of epidermolysis bullosa (DEB), characterized by mutations in the type VII collagen gene (COL7A1), are inherited either in an autosomal dominant or autosomal recessive fashion, and sporadic, de novo cases have also been reported. Clinically, the dominant forms (DDEB) can be indistinguishable from the mild, mitis forms of ...
Shields D C - - 1999
Recent reports have implicated the "thermolabile" (T) variant of methylenetetrahydrofolate reductase (MTHFR) in the causation of folate-dependent neural tube defects (NTDs). We report herein the largest genetic study of NTD cases (n=271) and families (n=218) to date, establishing that, in Ireland, the "TT" genotype is found in 18.8% of cases ...
Koch R - - 1999
In recent years, 16 cases involving the association between Lhermitte-Duclos disease (LDD), which is a hamartomatous overgrowth of cerebellar tissue, and Cowden's syndrome (CS), an autosomal-dominant condition characterized by multiple hamartomas and neoplasias, have been reported. LDD may be one of the manifestations of CS. Recently, mutations of the PTEN/MMAC ...
Ahmed H - - 1999
A very rare form of heredofamilial spinocerebellar degenerative disorder is reported in a 12-year old boy and his 39-year old Fulani mother. The two cases were compatible with the clinical picture of Harding's variant of spastic ataxia of childhood--a clinical and genetic entity distinct from the more common Friedreich's ataxia. ...
Ozuner G - - 1999
PURPOSE: Desmoid tumors are rare occurrences. However, they are more commonly seen in patients with familial adenomatous polyposis. The purpose of this article is to review three cases of abdominal desmoids in association with adrenal, ovarian masses, leiomyoma, and neurologic involvement in three sisters with familial adenomatous polyposis. METHOD: A ...
Justesen C R - - 1999
The authors present a case of Hallervorden-Spatz disease (HSD) in a 10-year-old boy treated with stereotactic pallidotomy for control of severe dystonia. Hallervorden-Spatz disease is a rare type of neuraxonal dystrophy that can be familial or sporadic. This is the first case of HSD reported in the literature in which ...
Oyama M - - 1999
We report a Japanese family with dyschromatosis symmetrica hereditaria (DSH) (MIM 127400 in McKusick's Mendelian Inheritance in Man), a rare autosomal dominant genodermatosis, predominantly occurring among Japanese and Korean individuals. Members of the present family affected with the disease showed a mixture of hyperpigmented and hypopigmented macules distributed on the ...
Malhotra S - - 1999
A case study of a 12 year old child evidencing psychogenic cough is presented. The importance of behavioral and family factors in maintaining such cough and an integrated psycho-behavioral approach at management are described. A 1 year follow-up revealed a rapid and complete elimination of psychogenic cough and good adjustment.
Maillefer R H - - 1999
Tylosis is a rare, autosomal dominant syndrome presenting with hyperkeratosis of the palms and soles of the feet. Two types have been identified. Late onset tylosis (type A) is reported to be associated with a high incidence of esophageal carcinoma, whereas early onset tylosis (type B) appears to be a ...
Schwartz I V - - 1999
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical ...
Myles-Worsley M - - 1999
We are studying the genetic etiology of schizophrenia in the Republic of Palau, a remote island nation in Micronesia that has been geographically and ethnically isolated for approximately 2,000 years. The first epidemiological phase sought to estimate the lifetime prevalence of schizophrenia and evaluate the familiality of the illness based ...
Busch N L - - 1999
BACKGROUND: Duane's retraction syndrome (DRS) has been described as a clinical entity for more than a century. Although the majority of cases occur spontaneously, some cases of DRS are inherited. CASE REPORTS: A young Romanian boy with a known left abduction deficit was determined to have DRS. On thorough examination ...
Zhang F - - 1999
OBJECTIVE: To investigate the incidence of nasopharyngeal carcinoma (NPC) and the clinical characteristics in this family through a long-term follow-up, and to seek the hereditary factor of NPC. This research was also designed to provide some clinical data for etiological study. METHODS: A genealogical tree of Ye-Liang's family was drawn ...
Vital C - - 1999
OBJECTIVE: About 8% of prion disease cases are familial and a few are due to an octapeptide repeat insertion (OPRI) in the prion protein gene. A suitable neuropathological examination has been performed in 20 cases from 9 families and in 3 isolated cases. The number of OPRI ranges from 4 ...
Inoue T - - 1999
This is a rare case of bilateral symptomatic os vesalianum in a 13-year-old girl whose mother had the same condition unilaterally. We performed osteosynthesis and bone grafting instead of a simple resection to preserve the peroneus brevis tendon, with excellent results.
Murata J - - 1999
We report a case of dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease, LDD). The patient also had cutaneous and mucosal hamartomas, adenomatous goiter, bilateral breast tumors, and gastrointestinal polyposis, indicating the diagnosis of Cowden disease (CD), the familial hamartoma syndrome. This was a rare sporadic case without any family history ...
Agnifili A - - 1999
A case of juvenile polyposis is reported and 271 cases are collected from the literature. The risk for neoplasia is analyzed and the endoscopic or surgical therapy is discussed. The authors conclude that juvenile polyposis should be considered as a challenge to the surgeon with regard to familial adenomatous syndromes, ...
Vetter R S - - 1998
This is the first report of clinically significant bites by the grass spider (Agelenopsis aperta). Two cases of envenomation in southern California are presented. In the more serious case, a child exhibited several envenomation symptoms. Although this spider may be generally innocuous, it should be considered as a creature of ...
Selzman C H - - 1998
In addition to classic vascular insults such as inflammation, trauma, malignancy, and surgery, a number of hereditary coagulation defects predispose patients to a wide array of thrombotic complications. A novel genetic defect in factor V allowing for resistance to its cleavage by activated protein C has recently been implicated in ...
Paquis P - - 1998
Syringomyelia is a rare, mainly sporadic disease of the spinal cord, which is associated with 80% of cases in which a Chiari Type I malformation is also present. A mendelian transmission of syringomyelia (autosomal dominant or recessive) has been proposed in approximately 2% of reported cases. The association of syringomyelia ...
Amin-Hanjani S - - 1998
Familial intracranial arteriovenous malformations (AVMs) are rare. We describe a father and son both presenting in childhood with cerebral AVMs. Both patients underwent successful surgical extirpation of the AVM. Familial AVMs present at a young age and tend to be multiple, as was the case in one of our patients. ...
Piacenza J M - - 1998
The case of a young primiparous woman with defibrillator-assisted familial hypertrophic cardiomyopathy (HCM) has led us to review the literature on this pathology, which is exceptional because of its scarcity and the originality of the problems encountered. To our knowledge, this is the first observation ever reported of defibrillator-assisted activation ...
Kamekura M - - 1998
In this review, the history of the classification of the family Halobacteriaceae, the extremely halophilic aerobic Archaea, is reviewed with some emphasis on the recently described new genera Halobaculum, Halorubrum, Natrialba, Natronomonas, and "Haloterrigena." Speculation is made about the evolutionary relationship between members of the Halobacteriaceae and the extremely halophilic, ...
Neumann L - - 1998
Published cases of familial unilateral terminal transverse defects are scarce. We report on a morphologically similar defect of the hand in a father and his daughter. The hand anomaly is similar in both, but on the opposite side. Thalidomide was taken in the sensitive period of the pregnancy by the ...
Anderson P J - - 1998
Nasal dermoid cysts are congenital malformations which result from anomalous embryological development. Two cases occurring in siblings are presented. There have been several previous reports that the condition may be familial but in this report the initial suspicion of the milder anomaly in the younger child was raised primarily because ...
Vital C - - 1998
We studied modifications of the molecular layer of the cerebellum in three patients with octapeptide repeat insertion (OPRI). Two brothers carrying a six-OPRI showed only spongiosis in haematoxylin & eosin preparations (H&E), whereas immunocytochemical examination (ICC) with an antiprion protein (PrP) antibody revealed numerous elongated PrP deposits. The third patient ...
Bergeron C - - 1998
Corticobasal ganglionic degeneration (CBGD) and progressive supranuclear palsy (PSP) were originally described in the sixties as predominantly motor syndromes. Over the years, the detailed study of additional cases of CBGD has shown that it is a distinctive histological entity which can often present as dementia or aphasia. Although some pathological ...
Abramson D H - - 1998
A retrospective chart review was performed on the charts of 1265 patients with retinoblastoma who were on file at New York Hospital and whose conditions had been diagnosed between the years 1960 and 1990. The mean follow-up was 90 months, ranging from 0 to 409 months. Thirty-two distinct presenting signs ...
Guerrini R - - 1998
Paroxysmal tonic upgaze of childhood with ataxia is a rare form of age related dystonia. Out of 12 previously reported cases, three had a clinical history of similar symptoms occurring in at least one first degree relative belonging to the same or two consecutive generations. Autosomal dominant inheritance was therefore ...
Mandorla S - - 1998
Atrial septal defect of the ostium secundum type is almost always sporadic, with multifactorial inheritance. We report a case of a family in which atrial septal defects of the ostium secundum type with atrioventricular conduction defects were observed in four generations: five proven cases and two probable cases. Ten families ...
Atkinson J L - - 1998
OBJECTIVE AND IMPORTANCE: A case of familial Chiari I malformation and a review of the literature are presented. Recent posterior fossa morphological studies suggest that the sporadic variant of adult Chiari I malformation may be caused by occipital dysplasia and overcrowding of posterior fossa contents. This analysis was applied retrospectively ...
Ruggieri M - - 1998
A case of solitary osteoma of the parietal skull is described in a mother and her 12-year-old son. There were no other craniofacial or dysmorphic features and there was no history of previous cranial trauma or inflammatory process and no radiographic evidence of other skeletal lesions in both patients. Family ...
Wisniewski K E - - 1998
Typically, late infantile neuronal ceroid-lipofuscinosis (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, blindness, seizures, and motor dysfunction. Curvilinear profiles are seen on electron microscopic examination of tissues derived from those patients. Data were collected on 122 LINCL cases, representing 81 independent families, diagnosed ...
Grant G G Centre for Social Policy Research and Development, University of Wales, - - 1998
Supplemented by a case illustration, findings from a study in Wales are reported for the first time from the application of two new instruments for measuring rewards and stresses among family caregivers. The paper takes as its starting point a critique of models of caregiving which emphasize instrumental and pathological ...
Lajeunie E - - 1998
From a series of 1,713 patients with craniosynostosis hospitalized between 1976 and 1996, 237 propositi with metopic synostosis were analyzed. The prevalence of metopic synostosis was estimated in the order of 1 in 15,000 children. Family information was obtained from 184 propositi from 179 families. The male-to-female ratio was 3.3:1. ...
Bekaert C - - 1998
We report a case of acne neonatorum developed in a boy since birth. His mother and his aunt had different signs of hyperandrogenism including acne and hirsutism. This case illustrates the correlation between acne neonatorum and familial hyperandrogenism. It shows the importance of the family history and the eventual clinical ...
Defazio G - - 1998
So-called apraxia of eyelid opening (scAEO) has been described chiefly in the context of extrapyramidal disorders. We described 10 new patients with scAEO developing in the absence of any other CNS sign and reviewed the 11 cases with isolated scAEO reported in the literature. Combining our patients and those from ...
Shimohata T - - 1998
We report siblings, a 21-year-old woman (proband) and her 26-year-old brother, with dentatorubral-pallidoluysian atrophy (DRPLA). There was no family history of DRPLA and no clinical abnormalities in their parents, who were both above the age of 50. Analysis of the DRPLA gene of leukocytes showed CAG repeat sizes to be ...
Challands J F - - 1998
Epidural anaesthesia in Familial Dysautonomia (FD) or the Riley Day syndrome has not previously been reported. Three children with FD presenting for redo Nissen fundoplication were managed with epidural anaesthesia. Cases 1 and 2 had had their original Nissen fundoplication without epidural anaesthesia. In Case 3, FD had not yet ...
Barth P G - - 1998
X-Linked myotubular myopathy is a well delineated congenital myopathy, with a high neonatal and early childhood mortality. Only a single gene, mapping to Xq28 has been implicated and has recently been characterized. Phenotypic variability, both inter- and intrafamilial, has been recorded. Its severest expression is a uniform disease with polyhydramnios ...
Heymann W R - - 1998
Hereditary papulotranslucent acrokeratoderma (HPA) is a rare autosomal dominant genodermatosis, characterized by persistent, asymptomatic, yellow-white translucent papules and plaques of the hands and feet. A case of HPA is presented and the literature of this variant of punctate keratoderma is reviewed.
Stalker H J - - 1997
We report on a 5-generation family with multiple musculoskeletal anomalies, including: Robin-type cleft palate, rib "dysplasia," scapular hypoplasia, and pectus excavatum. Robin-type clefts are known to be associated with various skeletal malformations; however, most of these include limb anomalies which are not present in this family. To our knowledge, there ...
Christ M J - - 1997
Myelokathexis is a rare from of neutropenia that is probably congenital, characterized by severe noncyclic neutropenia, recurrent infections, granulocytic hyperplasia of the bone marrow, and degenerative changes in mature neutrophils. The cause remains uncertain. A case of myelokathexis was reported in a father and two daughters, and based on this, ...
Kashiwase H - - 1997
In order to clarify the characteristics of folie à deux in Japan, we examined a total of 97 cases of folie à deux in the Japanese literature covering a period of 90 years, and compared them with the cases reported in Western countries. About 75% of the Japanese cases occur ...
Ding J - - 1997
We report a 9-year-old boy with repeated fractures of the tibia from age 6 months and microscopic hematuria from age 2 years. His maternal family has a history of nephritis and his paternal family has neurofibromatosis type-I (NF-I). The boy's renal biopsy revealed an irregular attenuation and splitting of the ...
Vaiphei K - - 1997
BACKGROUND: A juvenile polyp is a commonly seen condition in the pediatric age group as an etiological factor for rectal bleeding. The histological appearance was considered to be nonneoplastic and was distinguished from other neoplastic polyps. But this concept has been changing over the years as higher incidence of colonic ...
Takeuchi K - - 1997
Three adult Japanese cases of Gitelman's syndrome were characterized by secondary aldosteronism, hypokalemic alkalosis, hypomagnesemia, and hypocalciuria. Two were revealed to be familial cases. A mutation in the thiazide-sensitive Na-Cl cotransporter gene, which had already been confirmed in one family (Takeuchi et al. J Clin Endocrinol Metab 81: 4496,1996), was ...
Nakamura T - - 1997
In 1987 Young and Simpson reported a child with hypothyroidism, a congenital heart disease, severe mental retardation and striking facial dysmorphism, including microcephaly, blepharophimosis, bulbous nose, thin lip, low-set ears and micrognathia. This study presents an 8-month-old boy with virtually identical features to those in Young and Simpson's original case. ...
Faubert P F - - 1997
Idiopathic focal segmental glomerulosclerosis (FSGS) is a common cause of glomerular disease. Although previous case reports suggesting a familial form of the disease exist in the literature, its significance has not been emphasized. We report on our experience with nine cases in four families, as well as a review of ...
Elçioglu N - - 1997
We describe an additional case of Cenani-Lenz syndactylism in a 4 1/2-year-old boy from a consanguineous Turkish family. The digital anomalies consisted partly of synostosis and partly of malformations of the phalanges. Although there was no radio-ulnar synostosis or abnormality of the bones of the feet, the findings are comparable ...
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