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At least 163 records · Page 9Linked to original sources
PubMed1977

Congenital renal abnormalities in the Laurence-Moon-Biedl syndrome.

Two children with Laurence-Moon-Biedl syndrome had radiographic evidence of cysts in the renal medulla, and one had impaired renal function and infection. The frequency of cystic disease in this syndrome implies that intravenous urography should be carried out on all patients with this syndrome. Children with renal abnormalities should be followed to avoid further damage from urinary infection, or from dehydration in those with a concentrating defect. Regular renal function tests should be carried out on other children. and full investigation should follow if abnormalities are found in order that the natural history of the often fatal renal lesion can be clarified.

Child↗
PubMed1986

Histopathology of mitochondrial cytopathy and the Laurence-Moon-Biedl syndrome.

Clinical and histopathological studies of two patients with distinctly different inherited juvenile retinal dystrophies indicate that the ocular defect in mitochondrial cytopathy involves the underlying pigment epithelium, whereas in the Laurence-Moon-Biedl syndrome the photoreceptor cells are primarily affected.

Child↗
PubMed1988

Chronic renal failure; an important feature of the Laurence-Moon-Biedl syndrome.

Two cases of end stage renal failure occurring in association with the Laurence-Moon-Biedl syndrome are reported. Abnormalities in renal function and morphology are increasingly recognized in these patients in whom uraemia is an important cause of morbidity and early mortality. The presence of renal impairment, occurring as frequently as any of the pentad of features that characterize the syndrome, has important implications for the prognosis and long term management of these patients.

Adult↗
PubMed2000

Diffuse brainstem glioma in a patient with Laurence-Moon-(Bardet-)Biedl syndrome.

An autopsy case of a patient with diffuse brainstem glioma associated with Laurence-Moon-(Bardet-)Biedl syndrome is described. The subject was a 25-year-old woman who had been suffering from mental retardation, pigmented retinopathy, obesity, hexadactyly, amenorrhea and renal cysts. She developed dizziness, headache and consequent consciousness disturbance. Magnetic resonance images disclosed marked swelling of the pons without contrast enhancement. By means of combined chemotherapy and radiation, she survived for 15 months. Histopathological diagnosis for postmortem specimens obtained from the brainstem was glioblastoma multiforme. No pathogenetic association between the syndrome and brainstem gliomas is known, and the literature contains no cases of patients with this coincidence.

Adolescent↗
PubMed1991

Critical comment on Hicks-Caskey and Potter, "Effect of the full moon on a sample of developmentally delayed, institutionalized women".

Hicks-Caskey and Potter (1991) claim to have found a "full moon effect" on women in a developmental center. Further, they suggest the discrepancies in findings on lunar effects can be accounted for by (i) a lack of equivalent operational definitions and (ii) a person selection factor. It is argued that the Hicks-Caskey and Potter findings are undermined by weekday, holiday, season, weather, particular staff-subject interactions, and expectancy effects. In addition, the proposed explanations for differing outcomes in lunar studies do not explain both the negative findings and conflicting positive findings.

Acting Out↗
PubMed1990

Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome.

Previous reports have described the diversity of the phenotypic expression of the Laurence-Moon and Bardet-Biedl syndrome. This report describes two brothers whose features include the previously unreported defect of oligodontia in addition to retinitis pigmentosa, hypogenitalism, strabismus, short stature, and developmental delay. The reports over the last century have emphasized the varied expression from family to family and even differences among members of the same family. This report broadens the already pleomorphic nature of this syndrome.

Abnormalities, Multiple↗
PubMed1991

[Neuro-otological study of Laurence-Moon-Biedl syndrome].

Two siblings of Laurence-Moon-Biedl (L-M-B) syndrome with nystagmus and/or sensorineural hearing loss were reported. One sibling had a slight hearing impairment as well as gaze and rebound nystagmus. The auditory brainstem responses (ABR) showed increased latencies of wave V on both ears. The optokinetic nystagmus (OKN) was limited toward the both horizontal sides. Nystagmus was superimposed on the eye tracking movement. Ocular hypermetria was observed, with bilateral weakness of caloric responses and even a failure of visual fixation suppression. Another sibling had a left-beating spontaneous nystagmus. The latencies of wave V of ABR were prolonged in both ears. The leftward OKN was limited and bilateral saccadic pursuits observed on eye tracking test. These results suggest that cerebellar of brain-stem lesions may be involved in L-M-B syndrome.

Adult↗
PubMedDate not supplied

[Nosography of the Laurence-Moon-Bardet-Biedl syndrome].

The Author presents two cases of Laurence-Moon-Bardet-Biedl syndrome, characterized from a rare psychopathologic symptom consisting in a state of delirium (first case); by lack of obesity and oligophrenia (first case), and of familiarity (second case).

Adult↗
PubMed2003

[The influence of the moon on bleeding].

The theory of the influence of the stars and in particular of the moon to bleeding was most important in the 17th century; However, a survival of this belief was noted during springtime bleeding or treatment of mare sterility, seldom on other circumstances, in some traditional regions of France from 1930 to 1960. The results presented in the paper are obtained 1990-91 by enquiring of approx. 3.500 French veterinarians graduated 1911-1957.

Animal Population Groups↗
PubMed1990

Focal sclerosing glomerulonephritis in a child with Laurence-Moon-Biedl syndrome.

We report a 6-year-old white male with Laurence-Moon-Biedl syndrome and focal sclerosing glomerulonephritis (FSGN). To our knowledge, FSGN has not been reported previously in patients with this syndrome. We wish to alert the clinician to the wide variety of renal abnormalities that can be seen in patients with this rare, autosomal recessive disorder.

Biopsy↗
PubMedDate not supplied

Lawrence-Moon-Bardet-Biedl syndrome: a case report.

A case report of the rare Lawrence-Moon-Bardet-Biedl Syndrome in a 10-year old Nigerian boy is presented. The findings were obesity, mental retardation, polydactyly hypogonadism, macula degeneration and retinities pigmentosa.

Child↗
PubMed1990

[Laurence-Moon-Bardet-Biedl syndrome].

In 1984, 32 persons with Laurence-Moon-Bardet-Biedl syndrome (LMBB) were registered in Norway. This means that the disorder was seen at a rate of 1 in 128,000 inhabitants. Of these, 26 attended the Frambu Health Centre, where they consulted a pediatrician, a psychologist, a dentist, a social worker, a geneticist, a teacher for the blind and an ophthalmologist. The cardinal signs were retinitis pigmentosa, obesity and polydactyly. We also found that all the patients had disturbance of tooth formation. Many had hypogenitalism. Mental retardation is usually included as a cardinal sign. Our impression is that most of the patients have normal intelligence. But this will be investigated further in a follow-up study on young people with LMBB.

Abnormalities, Multiple↗
PubMed1989

Pituitary hormone reserve in the Laurence-Moon-Bardet-Biedl syndrome.

A patient who presented with hypgonadism was found to have classical features of the Laurence-Moon-Bardet-Syndrome. He had oligospermia and low serum testosterone. Basal serum thyroid stimulating hormone (TSH), prolactin (PRL), growth hormone (GH), cortisol, luteinising hormone (LH) and follicle stimulating hormone (FSH) were normal. Stimulation with thyrotropin releasing hormone. (TRH) showed normal pituitary reserve for TSH and PRL. Adequate insulin hypoglycaemia caused a normal rise of GH and cortisol. LH and FSH showed normal peaks after luteinishing hormone releasing hormone (LHRH). These results indicate normal pituitary hormone reserve and hypogonadotrophic hypgonadism secondary to hypothalamic dysfunction.

Adult↗
PubMed1989

[The value of echography in the early diagnosis of renal lesions in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of a case].

The Laurence-Moon-Bardet-Biedl syndrome (LMBB) is characterized by the association of obesity, hypogonadism, polydactyly, mental retardation and pigmentary retinitis. Symptomatic or asymptomatic renal dysplasia (calyceal diverticula, precalyceal tubular ectasia, cysts) is frequently associated with LMBB. The authors consider renal sonography as the convenient investigation for an early detection of such dysplasia as in the case they reported here.

Child↗
PubMed1989

[Polymorphism of clinical manifestations and characteristics of imbecility in the Laurence-Moon-Biedl syndrome].

The incidence of all feasible phenotypic variants and clinical forms of the disease observed by neurologists and psychiatrists are calculated using probabilistic approaches. The Laurence-Moon-Barde-Biedl syndrome course and related dementia features were studied in 7 children of 5 families. The patients displayed intellectual degradation with distinct peculiarities in the defect structure.

Age Factors↗
PubMed1986

The Laurence-Moon-Bardet-Biedl syndrome. Case report and endocrinologic evaluation.

The Laurence-Moon-Bardet-Biedl syndrome is a rare condition, with an incidence of 1 in 160,000. The diagnosis is usually made in men presenting with hypogonadism. Only a few women have been studied. We performed an endocrinologic evaluation of a woman with this syndrome. Her baseline values for follicle-stimulating hormone (FSH), luteinizing hormone (LH) and thyroid function tests were normal. Thyrotropin-releasing-hormone stimulation indicated a normal pituitary response of thyroid-stimulating hormone and prolactin. Luteinizing-hormone-releasing-hormone-stimulation tests showed a pubertal response of LH with a somewhat blunted FSH response. The etiologic factor in our patient appeared hypothalamic.

Adult↗
PubMed1985

The Laurence-Moon-Bardet-Biedl-syndrome.

This is a study of 3 cases of the Laurence-Moon-Bardet-Biedl syndrome in two families. In one family the parents were consaguineous (first cousins). The authors studied the main symptoms and insist on the importance of the ophthalmological manifestation. No hypophyseal involvement was observed in these cases.

Adolescent↗