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Results 651 - 700 of 978
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Ujihara M - - 1991
Familial hypocalciuric hypercalcemia (FHH) is usually characterized by asymptomatic hypercalcemia, mild hypermagnesemia, and low urinary calcium excretion, and is occasionally associated with pulmonary fibrosis. It is inherited as an autosomal-dominant, and no sporadic case of hypocalciuric hypercalcemia has been heretofore reported. This report describes a patient with hypocalciuric hypercalcemia completely ...
Kunitomo K - - 1991
A nation wide survey for cystic fibrosis was carried out in Japan from 1982 to 1989. Cystic fibrosis was determined by extended criteria including high concentration of sweat chloride (more than 60 mEq/L), digestive, and respiratory manifestations, and family history. A total of 25 cases were confirmed as cystic fibrosis ...
van der Burgt I - - 1991
We describe 7 cases of cartilage hair hypoplasia (CHH) with emphasis on the clinical and immunological aspects. The literature on CHH is reviewed and symptoms in 63 non-Amish cases are summarized. In this autosomal recessive disorder the immunodeficiency, hair abnormalities, and severity of skeletal involvement show extremely variable expressivity, between ...
Takagi M - - 1991
Forty-nine cases of isolated familial and idiopathic gingival fibromatoses, consisting of 12 cases from six families and 37 cases of idiopathic gingival fibromatosis, were reviewed. Pedigrees of five families revealed various penetrances and genetic heterogeneity as suggested by the presence of both autosomal dominant and autosomal recessive inheritances. Ultrastructurally, the ...
Aylsworth A S - - 1991
We describe 2 unrelated families with male-to-male transmission of Nager syndrome. All 5 affected individuals have moderate expression of the phenotype. One affected boy also has Hirschsprung disease. Although Nager acrofacial dysostosis usually occurs sporadically, both recessive and dominant inheritance have been suggested on the basis of reported familial cases. ...
Robertson C M - - 1991
It is known that some cases of neural crest tumours are hereditary. We report the clinical and cytogenetic findings in a three-generation, extended family, four members of which developed single or multiple neural crest tumours (ganglioneuroma, ganglioneuroblastoma or neuroblastoma). To our knowledge, this is the first report of a family ...
Balmer A - - 1991
The new concept of retinoma, or retinocytoma, brings up the rare 'spontaneous regressions' long-reported in the literature. Systematic investigation of all relatives of children suffering from retinoblastoma is showing up more and more retinoma cases undetected until now. From 1975 to 1990 the authors have identified 11 retinoma cases amongst ...
Requena L - - 1991
We describe a patient in whose family 13 of 26 members have a palmo-plantar keratoderma. The histopathological findings in the proband, his brother and father were those of epidermolytic hyperkeratosis. As in other families reported, this disorder was found to be inherited as an autosomal-dominant trait. A review of the ...
Rambaud-Cousson A - - 1991
We report on a newborn girl with syndactyly type IV, hexadactyly of feet, and right tibial hemimelia. She has 5 other relatives with identical anomalies of the hands and feet transmitted as an autosomal dominant trait. Syndactyly type IV is rare as is absence of the tibia. We suggest the ...
Quinn C M - - 1991
Twenty-one cases of arthrogryposis multiplex congenita, which had resulted in death soon after birth or had been aborted following prenatal diagnosis, were studied. Histochemical and histological study of muscle indicated that 11 cases were of myogenic origin, including congenital muscular dystrophy in 10 cases from six families and nemaline rod ...
van der Merwe P L PL Department of Paediatrics, University of Stellenbosch, Parowvallei, - - 1991
Progressive familial heart block type I (PFHB-I) is an autosomal inherited disease. It was previously postulated that the disease is limited to the cardiac conduction tissue. The presentation of a patient with dilated cardiomyopathy focused on the possibility that this might be part of PFHB-I. This observation led to routine ...
Blackford S - - 1991
Blue naevi are benign melanocytic neoplasms. They are usually solitary blue or blue-black nodules or plaques. Multiple blue naevi have been reported rarely and there is one report of familial solitary blue naevus. However, familial multiple blue naevi have not been reported previously. We report the case of a family ...
Washington C - - 1991
Olivocerebellar pontine degeneration of the Wadia type is characterized by progressive symmetrical cerebellar ataxia, slow eye movements, absent deep tendon reflexes, autosomal dominant inheritance, and onset between the second and fourth decades. The only available treatments are genetic counseling, social and psychological support, and physiotherapy. This article presents a case ...
Yates V M - - 1991
A case of harvest-mite infestation acquired in the South Lakeland area is described in a 7-year-old boy and his immediate family. The characteristic papular urticarial lesions produced are extremely florid and may cause diagnostic problems when patients present in areas where the mite is uncommon. The life cycle of the ...
Damkier A - - 1991
Cutis laxa is described in three cases: a 17-year-old man, his mother and his maternal grandmother. The onset of skin symptoms occurred from puberty to early adulthood. The skin was loose-hanging, wrinkled and without elasticity. X-ray examination showed numerous gastrointestinal diverticulae in the two older patients, and both had been ...
De Angelis M S - - 1991
We reviewed the 288 cases of centronuclear (myotubular) myopathy reported in the literature to correlate the clinical findings with the different modes of inheritance. Autosomal dominant (AD) inheritance occurred in 65 patients in 14 families. Recessive X-linked transmission (XLR) was present in 84 males belonging to 14 families. In 54 ...
Yokoyama K - - 1991
Brain arteriovenous malformations are considered to originate from a congenital maldevelopment of the brain vessels. Although there have been occasional reports suggesting a familial incidence of these lesions, data for only 10 families have been accumulated in the literature. The authors report on six such cases in three families. This ...
Mishra S K - - 1991
Homozygous familial hypercholesterolaemia is a rare disorder encountered in one in a million in the general population. Case reports of three patients from two families are presented. A 25 year male presented with extensive myocardial infarction and had a fatal outcome. His younger brother (14 years), as also a 12 ...
Traverso F - - 1991
There are a very few reports in literature of inherited intracerebral cavernous angiomas. The majority of them are Mexican-American families. In some of the reported families autosomal dominant transmission is suggested. We report a family in which three members of three consecutive generations were proven to have multiple intracerebral cavernous ...
Doherty M - - 1991
Familial predisposition to chondrocalcinosis (CC) due to calcium pyrophosphate dihydrate (CPPD) crystal deposition is described in five English kindreds. Two families were characterized by premature-onset polyarticular CC with little associated structural arthropathy. In one of these families, recurrent childhood fits were strongly associated with subsequent development of CC. Affected members ...
Araki W - - 1991
A 55-year-old man with cerebellar ataxia and steatocystoma multiplex was found to have reduced serum concentrations of total cholesterol, betalipoprotein and apolipoprotein B. Computed tomography revealed atrophy of the cerebellum and brain stem. Of the six family members examined, four had hypobetalipoproteinaemia, and one had mild ataxia. Similar skin lesions ...
Constantinidis J - - 1991
The present report documents a family with three cases in two successive generations of pigmentary orthochromatic leukodystrophy (POLD). The clinical features of these cases and histochemical and ultrastructural investigations of two of the brains from successive generations are discussed. A review of the familial cases of POLD reported in the ...
Armstrong S J - - 1991
We report a case of a 16 year old girl with orbital rhabdomyosarcoma who during chemotherapy developed bloody diarrhoea. On investigation she was found to have multiple colonic polyps. Cytogenetic analysis has shown a pattern typical of familial adenomatous polyposis. We present a review of the literature concerning the associations ...
Mathieu M - - 1991
Two brothers are described with trichomegaly, early pigmentary degeneration of the retina, growth retardation, anterior pituitary deficiencies and peripheral neuropathy. This syndrome, initially reported in a boy by Olivers and Mac Farlane in 1965 (6), and thereafter in six sporadic cases of both sexes, is not associated with a recognizable ...
de Keizer R J - - 1991
Three generations of a family with conjunctival xerosis, Rieger's anomaly (complete or incomplete) and arcus lipoides are described. The xerosis was found always to be accompanied by a Rieger anomaly, which had sometimes, but not always, been detected before. Independent heredity was not observed. In a number of cases the ...
Satishchandra P - - 1991
Thirty cases including 20 definite and 10 probable cases of Creutzfeldt-Jakob disease (CJD) seen in India between 1971 and 1990 are reported. Demographic analysis has shown similarities to the previously published reports from other parts of the world. Though 21 (70%) of cases were from two centers--Bombay and Bangalore-, suggesting ...
Sahin A - - 1991
Familial trait in vesicoureteral reflux (VUR) has been revealed in many studies. This paper reports on 36 siblings of 25 patients operated for vesicoureteral reflux at our Department. Siblings aged 2 to 21 years were evaluated by urine examination, urine culture and voiding cystourethrogram (VCU) for VUR. All of the ...
Li Volti S - - 1991
The authors report on three Sicilian families with 17 individuals (10 females and 7 males) in successive generations affected by atrial septal defect of ostium secundum type (S-ASD) without conduction defect. The anomaly was inherited as an autosomal dominant trait. Cytoplasmic inheritance could be excluded, the anomaly being transmitted also ...
Kovács T T Department of Obstetrics and Gynecology, University of Medicine, Debrecen, - - 1991
The 58 cases of bilateral renal agenesis (Potter syndrome) registered in the Genetic Counselling unit of our institute in the last 12 years are reviewed. The only familial recurrent case which has been prenatally diagnosed is described in detail. A urinary bladder anomaly like that of the subsequent third child ...
Fujita Y - - 1990
We report a family with May-Hegglin anomaly associated with familial spastic paraplegia. The propositus was a 39 year old male. His peripheral blood showed a Döhle-like inclusion bodies in WBC, giant platelets, and thrombocytopenia. He had been suffering from progressive gait disturbance of spastic paraplegia since 20 years old. He ...
Gamboa P M - - 1990
Extrinsic allergic alveolitis (EAA) are clinical entities of growing importance. The discovered etiological agents which can induce them, organic and inorganic substances of low molecular weight which are frequently found in the laboral environment, are every day more numerous. In the group of substances which are rarely implied in EAA ...
Capobianco D J - - 1990
The periodic paralyses are a rare group of disorders which may be familial, sporadic, occur in association with hyperthyroidism or as a result of potassium loss. A 46-year-old otherwise healthy Filipino male is described who presented with a second episode of paroxysmal painless weakness. Examination revealed a pattern of weakness ...
Gangemi M - - 1990
Three families with two or more members affected by cavernous angiomas of the brain are described and the other 17 reported in the literature are reviewed. The familial occurrence of cerebral cavernous angiomas has been considered a rare event; nevertheless, the experience of the authors (positive familiarity in three patients ...
Orstavik K H - - 1990
Familial cases of microtia and meatal atresia are rare, and both dominant and recessive inheritance have been suggested. We here report a family with right-sided external ear malformations and conductive hearing loss in a grandfather, his daughter and granddaughter. The grandfather and the granddaughter both had microtia and meatal atresia, ...
Berberian B J - - 1990
Four cases of rare familial multiple eccrine spiradenomas showing features of dermal cylindromas and associated with epithelioma adenoides cysticum of Brooke are reported. Skin biopsy specimens were obtained from three generations of this family and routine histochemical and immunoperoxidase stains were used. The eldest affected family member had multiple disfiguring ...
Lin A E - - 1990
The authors report a 15-month-old white male and his 30-year-old mother who both have persistent hyperplastic primary vitreous (PHPV) unassociated with other congenital anomalies. Although there are two previous reports of PHPV in siblings suggesting autosomal recessive inheritance, this is the first report compatible with autosomal dominant inheritance.
Pavicić Z - - 1990
To determine the occurrence of hereditary bullous epidermolyses (EB) in Croatia, Yugoslavia, from 1960 to 1987, cases were gathered from the hospital files of dermatologic and pediatric clinics and departments throughout the area. The diagnosis of EB type was made on the basis of clinical features, patients' histories, and light ...
McCarthy M I - - 1990
Acromegaly is usually regarded as a disease which arises sporadically except on those rare occasions in which it occurs as one component of an inherited pluriglandular syndrome. Familial acromegaly occurring in isolation has been reported only rarely. We have studied three families in each of which two first-degree relatives have ...
Plant G T - - 1990
Two families have been described previously with the features of an autosomal dominant familial cerebral amyloid angiopathy with nonneuritic plaque formation. The clinical features of the cases were dementia, spastic paralysis and ataxia. It has now been established that both families were descended from a common ancestor and the case ...
Hung K L - - 1990
Two siblings in a family--a 5-year-old boy and an 8-year-old girl--suffered from progressive headache and gait disturbance in an interval of 1 year, consecutively. Neurologic manifestations were papilledema and truncal ataxia. Both of their computed tomography scans showed a large, well-enhanced tumor located in the cerebellar vermis with secondary hydrocephalus. ...
Sobol S M - - 1990
Heredofamilial paragangliomas account for less than 10% of those arising in the head and neck. Multiplicity, multicentricity, and bilaterality is roughly three times more common than in the spontaneous variety. Not unlike other hereditary neuroendocrine tumor syndromes, familial paragangliomas appear to follow an autosomal dominant transmission, with variable penetrance and ...
Dean J C - - 1990
A family is reported in which isolated hypogonadotrophic hypogonadism is inherited as an autosomal dominant condition with variable expression. In previous familial cases, inheritance was autosomal recessive. Comparison is made with the endocrine and genetic findings in Kallmann's syndrome, which should be considered a separate disorder. There is difficulty in ...
Sloan J B - - 1990
We report two patients with segmental neurofibromatosis and review the literature with regard to possible hereditary transmission of this disorder. Patients that meet strict criteria for the diagnosis of segmental neurofibromatosis seem to have a low probability of transmitting the disease. We emphasize the importance of establishing and strictly adhering ...
Frecker M F - - 1990
We report two cases of Alzheimer disease (AD)--one of them familial--in which the patient also had amyotrophic lateral sclerosis (ALS), and one patient with familial AD who had a son with ALS. Three further cases of probable ALS were found in pedigrees of AD reported from the literature. It is ...
Carter J B - - 1990
Three male patients in successive generations of the same family developed acquired left-sided hemifacial spasm. Magnetic resonance imaging of the proband demonstrated a pontine vertebral artery anomaly near the root of the affected facial nerve. This family and a similar family that was recently presented illustrate several interesting features: (1) ...
Teebi A S - - 1990
Two brothers of normal first-cousin parents were found to have Robinow syndrome. Their paternal uncle also married a first cousin and had 3 similarly affected children (2 boys, 1 girl). The 2 affected brothers had short stature, mesomelic and acromelic brachymelia, characteristic face with hypertelorism, wide palpebral fissures, midface hypoplasia ...
Njoh J - - 1990
Tropical ataxic neuropathy (TAN) is reported for the first time from Liberia. It occurred in 2 women, within the child-bearing age from the same family in Sinoe County, Liberia. The family's diet consisted of rice and cassava derivatives. The diagnosis of this condition was made on clinical grounds. The patients ...
Ascherman L I - - 1990
Sibling incest has seldom been researched and thus remains poorly understood. The authors review a case and discuss it in the context of the recent literature on incest. The case report they present demonstrates the complexity of individual and family dynamics leading to incest and illustrates the need for caution ...
Zellman G L - - 1990
The goal of this investigation was to examine whether reporting decisions could be described by a coherent process that was consistent across incidents of suspected abuse. Using case vignettes imbedded in a national mail survey of mandated reporters, we examined the relationship between a series of judgments about the cases ...
Wittebol-Post D - - 1989
The dystrophy in 1961 described by Waardenburg and Jonkers in considered in the literature as a separate dystrophy by some authors and as an atypical form of granular dystrophy by others. That it is in fact the first description of, and synonymous with, the honeycomb dystrophy (Thiel and Behnke), in ...
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