Eineiige Zwillinge mit Laurence-Moon-Biedl-Bardet-Syndrom bei familiärem Vorkommen von fetaler Erythroblastose unter besonderer Berücksichtigung endokriner Besonderheiten

Moench, A.

doi:10.1007/978-3-662-24664-1_7

Cited by 2 publications

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“…Moreover, since published reports inevitably are weighed towards describing the unusual, the precise frequency of heart disease in the BB syndrome is unknown. The literature indicates a variety of heart malformations occurring predominantly in males [Blumel and Kniker, 1959;Moench, 1954;Spigolon et al, 1959;Canivez, 19541. Acquired heart disease, primarily hypertrophy of the left ventricle, was noted most frequently in association with renal disease and systemic hypertension [Anderson, 1945;Ross et al, 1956;Francke, 1950;Laha, 19581. In an attempt to determine a n unbiased estimate of cardiac involvement in the Bardet-Biedl syndrome we evaluated the cardiac status in affected members of three extended, highly inbred families with this syndrome.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 1994

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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.

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Section: Introductionmentioning

confidence: 99%