Three cases of malignant hemangiopericytoma in one family are reported. To our knowledge familial occurrence of malignant hemangiopericytoma has not been described before. Two of these lesions occurred in the head and neck region and one case presented as an intraabdominal tumor. Consanguinity of the parents seems to be likely, ...

Six cases of isolated aplasia cutis congenita of the scalp among family members over three successive generations are described suggesting an autosomal dominant inheritance. Five family members were examined in our clinic while one member is abroad. A review of the literature concerning isolated congenital aplasia cutis of the scalp ...

One hundred and twenty-five cases of biopsy-proven subacute or chronic peripheral polyneuropathy occurring in children under 17 years of age are reviewed. Ninety-three (74%) of the cases have been examined by the authors. At least 71% of cases were considered to be of genetic origin. Hereditary motor and sensory neuropathies ...

Our 86 cases of neuronal ceroid-lipofuscinosis (NCL) included 7 children with the infantile variant, 28 with the late infantile variant, and 51 with the juvenile variant. Thirty-one cases were drawn from a NCL registry and were not evaluated personally by the authors. Another 30 cases from the registry were not ...

Corneal dystrophies are distinctive clinically and histopathologically; however, variations do occur. We present two cases of stromal amyloidosis from one family masquerading other corneal dystrophy. The two cases are from a six-generation family with an autosomal dominant corneal dystrophy resembling Reis-Bucklers' dystrophy. In these cases, neither the propositus nor other ...

Several reports have been published about familial polycythaemia vera (PV) but no information is available about the incidence of thrombocytosis in the same family. In our population of thrombocytosic patients, both with primary thrombocytosis (133 cases) and secondary (37 cases), we found only two family related subjects. One of them ...

In this review the author considers the need for academic family physicians, describes their work, reviews the rewards and stresses of the jobs they do, and finally offers direction for someone considering such a career.

Two familial cases of dilated cardiomyopathy were evaluated by HL-A typing. In the case of the first family, the mode of inheritance is likely to be an autosomal dominant trait. Only the affected individuals carried the identical HL-A haplotype (A2, Bw54, Cw1, DR4, DQw3), while the unaffected members do not ...

Familial giant hypertrophic gastritis involving three generations is reported. A review of the literature, where approximately 200 cases are described, showed only few cases of familial occurrence of this disease, and only in siblings. Our findings suggest dominant heredity, but considering the sparsity of familial occurrence reported earlier, heredity seems ...

Three family members, at initial evaluation, had generalized comedonal lesions with histologic changes of acantholysis and dyskeratosis. A total of nine cases of this entity, termed familial dyskeratotic comedones, have been documented in the literature. It appears to have autosomal dominant inheritance and onset in childhood or adolescence. Lesions are ...

A 30-year-old female with mesenteric fibromatosis (MF) associated with familial colonic polyposis (FCP) was reported together with a review of Japanese cases of simple MF. Intestinal surgery can contribute to the pathogenesis of MF more intensely in cases associated with FCP than in simple MF cases. Furthermore, the biological behaviour ...

Familial middle ear ossicular anomalies are rare. We report on a daughter and her mother with congenital conductive hearing loss. Tympanotomy disclosed hypoplasia of long crus of incus whose tip had been replaced with a fibrous strand. A review suggests that middle ear ossicular anomalies may be inherited as autosomal ...

Two case reports of linear porokeratosis occurring in individuals or families with disseminated, superficial, actinic porokeratosis (DSAP) are presented. Linear porokeratosis and DSAP may be different expressions of one dominantly inherited condition. We reviewed the clinical features of linear porokeratosis and its association with other forms of porokeratosis. The linear ...

Fifty-seven cases of apple peel jejunal atresia have been reported in the English literature. Patients with this anomaly have a high incidence of prematurity (70%), malrotation (54%), short gut syndrome (74%), multiple atresias (15%), complications (63%), and mortality (54%). Mortality has decreased from 63% to 47% since 1970. We report ...

Seventy-four New Zealand Army personnel with a distinctive bullous dermatosis caused by an endemic beetle are described. These are the first reported cases of this condition in New Zealand. The beetle, Thelyphassa lineata (Fabricius) belonging to the family Oedemeridae was shown to be a vesicant species, as skin contact induced ...

A 7-year-old patient presented with an acute haemolytic episode. Investigation showed the presence of an unstable haemoglobin (Hb), identified as Hb Köln. No other members of the family were affected. This disorder has occasionally been seen as a spontaneous mutation. This is the first report of Hb Köln in a ...

Cases of hypomagnesaemia of hereditary renal origin represent at least three different congenital disorders of tubular reabsorption of magnesium (Mg). Isolated familial hypomagnesaemia has been reported in a heterogeneous group of patients and an autosomal dominant pattern of inheritance has often been found to be present. Familial hypokalaemia-hypomagnesaemia, inherited as ...

A study was carried out in the United Kingdom of patients with severe osteogenesis imperfecta (OI), born with fractures to normal parents, in order to determine recurrence risks. A total of 105 cases from 98 families survived the perinatal period and 60 cases from 57 families were stillborn or died ...

Four cases of compulsive hoarding are described, all sharing the following characteristics: (1) onset in the twenties, (2) preoccupation with hoarding to the exclusion of work and family, (3) diminished insight, (4) little interest in receiving treatment, (5) no attempt to curb their compulsion. They do not show clear psychotic ...

The epithelial expression of carbohydrate antigen, stage-specific embryonic antigen 1 (SSEA-1) was examined immunohistochemically in noncancerous specimens from patients with familial polyposis coli, and compared with the colorectal epithelia from patients with sporadic colorectal cancer. In mucosa remote from carcinoma of sporadic cases, SSEA-1 was expressed only faintly in the ...

Polydactyly of the hand, of the foot, and of the hand combined with the foot were studied. As noted in previous reports of polydactyly, inherited cases represent about 10% of polydactyly of the hand or foot, and unilateral involvement is more common than bilateral. In 495 cases of polydactyly 27 ...

Three familial cases of idiopathic hypertrophy of the masticatory muscles are reported. The muscular enlargement was noted in late childhood or early adult life, was bilateral, insidious, painless and non-progressive. Electrophysiological and laboratory findings were normal in one case. CT examination, performed in two cases, showed homogeneous bilateral enlargement of ...

The authors discuss a case in which three siblings presented with Mycoplasma pneumonia. All three had a typical rise in complement fixation antibody titres. However, the sibling with the highest titre also developed cranial sixth-nerve palsy; in addition, she was the only one of the three who did not have ...

Although scattered case reports of familial clustering of pancreatic cancer have appeared in the literature, hereditary factors have not been clearly associated with increased risk for this malignancy. The current report documents the familial occurrence of pancreatic adenocarcinoma in three women of consecutive generations who died of their disease at ...

A family is presented in which there is a high incidence of hypertrophic cardiomyopathy and congenital deaf-mutism. The two abnormalities occurred together in 2 cases, and the syndrome was strongly suspected in a third individual. Hypertrophic cardiomyopathy without deaf-mutism was observed in a further 2 cases. Hypertrophic cardiomyopathy is inherited ...

Anterior sacral meningocele is a rare and often occult disorder that is important to diagnose. It usually occurs sporadically, and familial case reports are rare. This report describes ten documented cases of anterior sacral meningocele in one family. Spanning five generations, it is the largest such series ever reported. In ...

We report a girl aged 11 and her brother aged five, both with the typical features of Angelman syndrome, and three isolated cases. This report, together with a review of published reports and contact with previous authors, has revealed a total of 41 sibs of probands, although only nine of ...

Two cases of Weber-Christian panniculitis with onset at 7 months and 3 years 6 months are described. Both show evidence of disturbances in immune mechanisms. The family of the first case has a high prevalence of coeliac disease, and the mother of the first patient also suffers from alopecia areata ...

Three patients in a family with familial exudative vitreoretinopathy (FEVR) were studied especially electrophysiologically. Two cases showed abnormal ERG, namely reduction of amplitude of oscillatory potentials, a and b wave of bright white flash ERG, scotopic and photopic b waves. One case showed reduced Light peak/Dark trough ratio of EOG. ...

Cardiomyopathy is a heterogeneous disorder with numerous inherited and acquired causes. Familial, isolated, dilated cardiomyopathy is usually reported as being inherited in an autosomal dominant mode with variable penetrance and expressivity. In this paper we describe a form of autosomal recessively inherited, dilated, cardiomyopathy occurring in three members of a ...

Attempts to study the genetics of human thumb polydactyly have been hampered by lack of awareness of the extremely varied expression of upper limb preaxial anomalies. It has been appreciated that thumb polydactyly could range from a broadened distal phalanx to complete duplication of the entire thumb. Most cases are ...

We report on three members of a Brazilian family with distal arthrogryposis type II D. This autosomal dominant trait was described by Hall et al [1982] and is characterized by scoliosis without associated vertebral anomalies and distal contractures. To the best of our knowledge, this family is the second literature ...

We report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum. His chromosomes were normal. He died at ...

An Indian mother and daughter who developed pemphigus within a few months of one another are reported. This is the first fully documented case of familial pemphigus in Indian patients, and the first occasion on which HLA typing has been performed. It is also the first fully documented example of ...

We report two patients with Robinow or fetal face syndrome. We present a thirteen year follow-up on three previously published cases and a review of 32 cases in the literature. The cardinal features of this condition include mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned ...

We report two illustrative cases of geographic tongue which occurred in 6- and 4-year-old sisters whose father had fissured tongue. The elder sister had mild atopic dermatitis and nail changes, but there was no family history suggestive of psoriasis. Histologically, the geographic tongue in the elder sister showed the same ...

Seven cases of phenylketonuria including a pair of siblings were detected among 451 institutionalized mentally retarded individuals in Kuwait. A further 13 cases from eight Arab families of different nationalities were ascertained among referral cases. The occurrence of phenylketonuria in Kuwait and other Arab countries is discussed in view of ...

In 1811 Mary Reynolds, a somber Pennsylvania spinster, awoke from a prolonged sleep as a new personality. Family memoirs describing her 18 years of shifts between two personalities shaped nineteenth century thinking about multiple personality disorder. As in other early case histories, no mention was made of childhood trauma, a ...

Two families with X-linked recessive centro-nuclear myopathy (XLR-CNM) are described. Evidence is accumulating that XLR-CNM forms a distinct entity, in contrast to the commoner later-onset forms. Family history often provides a clue to the diagnosis. Pregnancy is very often complicated by hydramnios and reduced fetal movements. We describe two families ...

Following a brief review of the psychoanalytic literature on perversions, a case of fetishism is presented. The patient was a man who could only have an erection while wearing an apron. Nevertheless, it did not help him to reach an orgasm. He could only achieve this while having certain anxiety ...

Desquamative interstitial pneumonitis (DIP) is rare in children. Its cause is unknown. In general, it is of sporadic occurrence. We report 4 infants: 2 sibs in each of 2 separate families, who had DIP. All 4 infants died despite intensive care and immunosuppressive therapy. Our cases, plus one other similar ...

In 50 consecutive cases of slipped capital femoral epiphysis (SCFE) from 49 families, the heredity was analyzed by radiographic examination of the first-degree relatives and by interview regarding the second-degree relatives. In four of the 49 families, SCFE was obvious in one or more first-degree relatives; and in another 13 ...

Peripheral corneal opacification in the line of closure of the embryonic fissure associated with hyperopic astigmatism and anisometropic amblyopia was identified in two eyes of two members of a family with isolated autosomal dominant coloboma-microphthalmos. A review of the literature disclosed no previously reported cases. It would appear that the ...

Two French-Canadian families with seven cases of hydrocephalus in two generations are presented. The pattern of inheritance is consistent with an X-linked recessive transmission. The clinical and pathologic characteristics of this entity are reviewed. The anomaly of adducted thumbs was present in one patient and its cause is considered. The ...

Three members of a family acquired psittacosis after exposure to a wild pigeon. Each of the patients had pulmonary infiltrates, prominent headache, abdominal complaints, and serologic evidence for infection with Chlamydia psittaci. Of 759 cases of psittacosis reported to the Centers for Disease Control for the period of 1974 to ...

We investigated all patients in Maryland reported to have Huntington's disease (HD), and found considerable diagnostic inaccuracy. Fifteen percent of cases reported as HD actually had some other diagnosable condition; 11% of cases that met diagnostic criteria for HD had been given some other diagnosis. Diagnostic errors could be reduced ...

The authors present the cases of four brothers and sisters, two women and two men, who had trigeminal neuralgia, with the onset of pain occurring between the ages of 24 and 31 years. Three of them were treated surgically. A review of the literature reveals that familial trigeminal neuralgia is ...

Atrophie blanche is an uncommon condition characterized by the development of white atrophic patches of skin on the lower extremities, which form as a result of fibrinoid vasculitis of superficial and mid-dermal vessels followed by necrosis and ulceration of the epidermis. We report four cases in which similar lesions developed ...

This survey reviews the diagnosis (predominantly radiological) of 32 cases of pseudoachondroplasia from 26 kindreds and illustrates the natural history and varying appearance of the disordered bone growth from infancy to adult life. In addition, an attempt has been made to detect phenotypic differences between autosomal dominant and recessive types ...

Hereditary malformations of the external ear, such as microtia and meatal atresia, not associated with other congenital defects or syndromes, are rarely reported. Only a few familial cases have been described in which both dominant and recessive inheritance has been suggested. We report a sibship in which a wide variation ...