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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 ...
Macrae F A - - 1989
Colorectal cancer in familial adenomatous polyposis is a preventable disease in at-risk relatives of patients with primary cases. Until the recent establishment of a register in Western Australia, there has been no registration of pedigrees or central organization of surveillance in Australia. In the present study, the experience of 20 ...
Miller R L - - 1989
The occurrence of polycythemia vera in a father, mother, and two sons is reported. Thirteen kindreds with familial polycythemia vera in 31 members are reviewed. Comprehensive records were available for all four patients as well as other family members, since all were diagnosed and treated at the author's institution over ...
Kellum R E - - 1989
Four siblings with Papillon-Lefèvre syndrome (3 boys and 1 girl), aged 8 to 12 at time of first diagnosis in 1978 are reported. These four patients represent the second largest sibship reported in the literature, and the only familial cases treated with etretinate for 6 years with an additional 3 ...
Sebastian J P - - 1989
Paragangliomas are neuroendocrine tumours and those occurring in the head and neck have well recognized familial association. Retroperitoneal paragangliomas are uncommon and we present two cases of familial malignant retroperitoneal paraganglioma. Review of the literature revealed marked differences in the incidence and malignant potential of familial and non-familial paraganglioma. In ...
Journel H - - 1989
The prenatal diagnosis of autosomal dominant polycystic kidney disease (ADPKD) is now being reported with increasing frequency. We report three cases and review 12 cases of ADPKD diagnosed in the fetus by ultrasonographic findings. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ADPKD. Renal cysts are uncommon. ...
Reed C Y - - 1989
This paper uses the metaphor of the wedding in an arranged marriage to describe the process of using a network meeting to overcome resistance and engage a hostile adolescent and her family in a residential treatment programme. A review of the literature is followed by a description of the clinical ...
Gartry D S - - 1989
This paper describes three siblings, the only affected members of the family, with gelatinous drop-like keratopathy. This rare form of primary corneal amyloidosis has been reported almost exclusively in Japanese literature, and to our knowledge this is the first report of the condition seen in the United Kingdom. Clinical and ...
Cobben J M - - 1989
We report on Poland anomaly in a mother and her daughter. Further family history was negative for abnormalities of the hands or the pectoralis major muscle. A review of published cases of familial Poland anomaly is presented. Implications concerning the possible etiology of familial cases of Poland anomaly are given.
Watsky K L - - 1989
A case of superficial gyrate erythema that was indistinguishable from erythema annulare centrifugum occurred in identical twins. We propose to include a familial cause among the known causes of erythema annulare centrifugum rather than considering this a separate entity, "familial annular erythema."
Acqui M - - 1989
We use the term "occasionally-occurring familial brain tumours" (OFBT) to designate cases in which more than one member of a family presents a brain tumours outside the range of the clinical syndromes in which CNS cancer heredity is well established. We report our experience of OFBT and review the published ...
Salvarani C - - 1989
A new case of association between Bartter's syndrome and chondrocalcinosis is reported. The patient was shown to have marked hypomagnesemia. Indomethacin and magnesium therapy was started and resulted in increased magnesemia, even if it did not reach normal levels. There was complete remission of articular symptoms and no progression on ...
Berth-Jones J - - 1989
Familial epidermolytic hyperkeratosis confined to the palms and soles was first characterized by Klaus and Weinstein in 1970. This entity has been the subject of only four subsequent reports. We report a family previously diagnosed as suffering from tylosis (Thost Unna syndrome), in which eleven members have been affected, and ...
Limber E R - - 1989
We describe two families (including one previously reported) in which cerebellar or spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy result from abnormal function of an autosomal recessive gene. Review of the literature adds one other family with this disorder. These three examples confirm the existence of this traid as a ...
Wadud M A - - 1989
Familial scleroderma is rare. There have been few reported cases of familial scleroderma in medical literature. This report adds one more instance to the literature. Two members in one family had clinically and histologically established localised scleroderma (morphea). The hereditary aspect of the disease has not been well established. But ...
MacDermot K D - - 1989
We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the familial cases were ...
Reed O M - - 1989
A family with congenital localized hypertrichosis transmitted in an autosomal dominant pattern is presented. The excessive hair growth was localized to the cervical region and was associated with underlying kyphoscoliosis. No additional cutaneous or skeletal abnormalities were identified. To our knowledge these are the first cases of familial congenital cervical ...
LeSher A R - - 1989
Two cases of hepatocellular carcinoma in patients with familial polyposis coli (FPC) have recently been reported in the literature. Hepatoblastoma was also reported in five children with maternal ancestors with FPC. We report a case of hepatoblastoma in a female infant whose father has FPC as further evidence of an ...
Eustace S - - 1989
Victor and his associates coined the term oculopharyngeal muscular dystrophy to describe a clinical syndrome characterised by dysphagia and ptosis. Subsequent authors have traced a large series in French Canadians to a single Quebec isolate and have emphasized that the condition is usually inherited as a dominant trait. In 1974 ...
Zeana C - - 1989
A case of familial angioedema due to deficit of C1 esterase inhibitor is presented. The case had the following peculiarities: onset at a very early age (8 months); involvement, in some attacks, of the nasal mucosa with nasal obstruction and sinusitis manifestations; unusually long duration (as long as 9 days) ...
Cottrell D - - 1989
Case notes of all patients admitted from two adjacent catchment areas with a diagnosis of schizophrenia, schizoaffective disorder, or psychosis were examined for information concerning the patient's family. On average, case notes contained only 9-25% of the basic information looked for. Family trees were rarely drawn. A record was made ...
Ojha R K - - 1989
Estimation of plasma cortisol by fluorometric technique desorbed by Mallingly's was carried out in 56 cases, including 38 cases of myopia (19 cases of simple myopia and 19 cases of degenerative myopia) and 18 normal individuals. Urinary 17-keto steroids/24 hours was also estimated by Zimmermann technique in 12 out of ...
Cooke R P - - 1989
To determine the incidence of secondary meningococcal infection in close family and household contacts of index patients and to review the efficacy of chemoprophylaxis the records of 3256 cases occurring from 1984 through 1987 were examined. Seventeen secondary cases (0.5%) of infection were identified among these groups. The median interval ...
Molgaard C A - - 1989
The use of modern epidemiological and biostatistical methods has been lacking in the research literature on anorexia nervosa. The present study utilized a retrospective case control design in which 40 cases of anorexia nervosa were matched to two separate control series, one being population based and one being clinic based. ...
Samuelsson B - - 1989
The genetic analysis undertaken here shows that the direct (i.e. proband) method for calculating risk figures is not readily applicable to von Recklinghausen neurofibromatosis (NF-1); the selection of available sibling groups for analysis becomes biased in various ways, primarily because of the wide phenotypic variation of the disease. However, indirect ...
Goodman J C - - 1989
The autosomal dominant form of familial angiolipomatosis may be mistaken for peripheral neurofibromatosis (NF-1) due to the similarity of the family history and the occurrence of multiple subcutaneous masses, but histopathological examination of the tumors readily distinguishes these two diseases. We report here a case of familial angiolipomatosis, which was ...
Martinelli P - - 1989
Two familial cases of recurrent brachial plexus are described and similar episodes were noticed in other members of the family. Electrophysiological investigations found impaired motor and sensory nerve conduction velocity in affected and nonaffected members. Tomaculous neuropathy was found at biopsy of peripheral nerve in more than 40% of dissected ...
Delcambre B - - 1989
Two inherited cases of osteomesopyknosis are reported. This is an autosomal dominant osteosclerosis described by Maroteaux in 1980; its radiological abnormalities consist of increased density of the vertebral plates, pelvis, and sometimes of the upper part of the femur. Osteomesopyknosis, usually discovered incidentally on radiographic examination, is a mild form ...
Laskaris G - - 1989
Two families of Greek origin with oral pemphigus vulgaris are reported. Both are fully documented cases of familial pemphigus in Greek Mediterranean patients. In the first family, a sister and a brother developed oral mucosal pemphigus lesions within a 5-year period, and a cousin had died from the disease 20 ...
Takato T - - 1989
We describe here 2 patients with question mark ears in one family. They had the peculiar auricular deformities bilaterally. Both patients had a cleft between the helix and earlobe respectively. The upper portion of the auricle showed marked prominence. The mother also showed notching between the helix and earlobe. The ...
Lamiell J M - - 1989
We present a 6-generation kindred of over 221 members, 43 of whom were affected with von Hippel-Lindau (vHL) disease. Through a simple screening protocol, we diagnosed vHL retrospectively in 15 cases, and for the first time in 28, 11 of whom were presymptomatic. We found many complications of vHL in ...
Szobor A - - 1989
Eleven-hundred myasthenia gravis cases observed by the author in a period of 37 years are reviewed. The ratio of familial incidence was 4.23%. Transitory (neonatal) myasthenia in new-born babies should be separated from the familial cases. In familial myasthenia gravis both maternal and paternal line can occur. The majority of ...
Nikoskelainen E - - 1988
This study gives some illustrative case reports of the difficulties in the diagnosis of Leber's hereditary optic neuroretinopathy. It underlies the importance of careful family history and search for peripapillary microangiopathy in the maternal relatives of patients suspected to suffer from Leber's disease. The article casts doubt on the existence ...
Ricci E - - 1988
We report on sibs with scleroatonic familial myopathy (Ullrich disease). Muscular weakness was of relatively late onset in relation to other cases reported in the literature. Short stature and moderate growth hormone deficiency were noted during follow-up. Differential diagnosis with other neuromuscular disorders, particularly rigid spine syndrome, is discussed.
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