The renal lesion of the Laurence-Moon-Biedl syndrome

Hurley, R. Morrison; Déry, Pierre; Nógrády, Miklós; Drummond, Keith N.

doi:10.1016/s0022-3476(75)80580-4

Cited by 71 publications

(41 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Different structural female genital anomalies were published in 13 patients with different ethnic background (table 3). Nephropathy and hepatic involvement were reported in several patients [25,26]. Phenotype variability of BBS pleiotropic gene was manifested among the 23 patients ascertained in Kuwait and the 3 new patients in the present study (table 4).…”

Section: Discussionsupporting

confidence: 48%

Bardet-Biedl Syndrome: Clinical, Endocrinological and Imaging Evaluation of Three Unrelated Bedouin Children

Saleh¹,

Mady²,

Al-Ghanem³

et al. 1998

Med Princ Pract

View full text Add to dashboard Cite

Objective and Importance: Bardet-Biedl syndrome (BBS) is a heterogeneous disorder; clinical dissimilarities do exist among patients. Cases of BBS have been reported with hypertension, diabetes mellitus and renal disease, while others were reported with hepatic disease. Here, we are reporting 3 newly diagnosed unrelated Bedouin children, evaluated for the presence of an endocrine disorder. Clinical Presentation: Our patients were 2 males and 1 female. These patients are obese with a voracious appetite, postaxial polydactyly and mentally retarded. Pigmentary retinopathy was found in the older children and hypogenitalism is apparent in the older male child who is also hypertensive. The clinical, endocrinological and imaging evaluation data are compared with previously published cases. Also, phenotypic variability and genetic heterogeneity of BBS pleiotropic gene are briefly discussed. Conclusion: The results of hormonal studies in our cases showed no endocrinological dysfunction, except for the presence of hypogonadism. Although no specific treatment is available, an early evaluation of BBS cases can be the first step in initiating symptomatic management and preventive measures for the patient and the family.

show abstract

Section: Discussionsupporting

confidence: 48%

Bardet-Biedl Syndrome: Clinical, Endocrinological and Imaging Evaluation of Three Unrelated Bedouin Children

Saleh¹,

Mady²,

Al-Ghanem³

et al. 1998

Med Princ Pract

View full text Add to dashboard Cite

show abstract

“…28 Renal lesions may include renal cysts, dysplasia, concentrating defects and progressive renal failure. 28 Histologically, cystic dilatation of the renal collecting ducts have been described, 29 reminiscent of infantile NPHP.…”

Section: Meckel -Gruber Like Syndromementioning

confidence: 99%

Nephronophthisis

2008

View full text Add to dashboard Cite

“…Specific diagnostic criteria for the more common Bardet-Biedl syndrome have been defined [Schachat and Maumenee, 19821 and a t least four of the five cardinal signs: mental retardation, obesity, hypogenitalism, polydactyly, and tapetoretinal degeneration are required for the diagnosis. An impressive body of evidence suggests that renal disease should be considered a sixth cardinal sign, with many surveys reporting renal involvement in up to 90% of patients [Bauman and Hogan, 1973;Hurley et al, 1975;Churchill et al, 19811. A high incidence of both congenital and acquired heart disease has been suggested from a review of the literature, performed in the early sixties lMcLoughlin et al, 19641.…”

Section: Introductionmentioning

confidence: 99%

Cardiac abnormalities in the Bardet‐Biedl syndrome: Echocardiographic studies of 22 patients

et al. 1994

View full text Add to dashboard Cite

The Bardet-Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, hypogenitalism, and renal involvement. A high incidence of congenital and acquired heart disease was reported in the former "Laurence-Moon-Biedl-Bardet" syndrome. However, since the establishment of the Bardet-Biedl syndrome as a separate clinical entity, cardiac involvement has not been evaluated in this disorder. We have performed echocardiographic studies on 22 patients with the Bardet-Biedl syndrome from three extended, highly inbred Bedouin families. In addition to previously reported congenital heart defects we have observed hypertrophy of the interventricular septum and dilated cardiomyopathy. Our findings of cardiac involvement in 50% of the cases suggest that echocardiographic examination should be included in the clinical evaluation and follow-up of patients with Bardet-Biedl syndrome.

show abstract

The renal lesion of the Laurence-Moon-Biedl syndrome

Cited by 71 publications

References 7 publications

Bardet-Biedl Syndrome: Clinical, Endocrinological and Imaging Evaluation of Three Unrelated Bedouin Children

Bardet-Biedl Syndrome: Clinical, Endocrinological and Imaging Evaluation of Three Unrelated Bedouin Children

Nephronophthisis

Cardiac abnormalities in the Bardet‐Biedl syndrome: Echocardiographic studies of 22 patients

Contact Info

Product

Resources

About