Sonographic and urographic correlation in Bardet-Biedl syndrome (Formerly Laurence-Moon-Biedl Syndrome)

Cramer, B.; Green, J.; Harnett, John D.; Johnson, Gordon J.; McManamon, P J; Farid, Nadir R.; Pryse-Phillips, William; Parfrey, Patrick S.

doi:10.1007/bf02926564

Cited by 20 publications

(7 citation statements)

References 8 publications

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“…We report on 2 girls with the Bardet-Biedl syndrome who had atresia of the vagina. We have identified previous reports of 11 other females with Bardet-Biedl syndrome and genital defects [Green et al, 1989;McLoughlin and Shanklin, 1967;Klein and Amman, 1969;Cramer et al, 1988;Nadjimi et al, 1969;Srinivas et al, 19831.…”

Section: Introductionsupporting

confidence: 58%

Genital abnormalities in females with Bardet‐Biedl syndrome

1995

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The major manifestations of the Bardet-Biedl syndrome are digital anomalies, tapetoretinal degeneration, obesity, renal abnormalities, and hypogenitalism (described mainly in males). We report on 2 girls with Bardet-Biedl syndrome who also had vaginal atresia. A similar association in females with Bardet-Biedl syndrome was suggested in published reports of 11 affected individuals who had structural genital abnormalities, (some of which were missed in childhood), including persistent urogenital sinus, ectopic urethra, hypoplasia of the uterus, ovaries and fallopian tubes, uterus duplex, and septate vagina. The association of atresia of the vagina and other malformations of female genital structures in individuals with Bardet-Biedl syndrome has often been missed in childhood and should be looked for more systematically.

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Section: Introductionsupporting

confidence: 58%

Genital abnormalities in females with Bardet‐Biedl syndrome

1995

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“…After 12 months, the kidney size had regressed significantly and fetal lobulation persisted in some patients [79]. In other studies, fetal lobulation and non‐communicating calyceal cysts or diverticula or clubbing have been found as characteristic renal findings (occurring in 70–96% of patients) [12,81], whereas 20% had diffuse and 4% focal cortical loss [12]. A recent study has reported a BBS patient with bilateral microaneurysms and occlusion in renal arterioles [74].…”

Section: Literature Review and Discussionmentioning

confidence: 91%

“…The renal disease often goes undetected, whereas specific radiological testing of the kidney status should be carried out after diagnosis of BBS, as in this disorder early death prevailingly occurs as a consequence of renal disease [5]. Renal structural abnormalities of BBS are still best imaged by urography [81]. A prenatal diagnosis of BBS is now possible by targeted second‐trimester sonography [95].…”

Section: Literature Review and Discussionmentioning

confidence: 99%

A review of the literature of Bardet–Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty

et al. 2002

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Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment. The expression and severity of the various clinical BBS features show inter- and intrafamilial variability. This study focuses on three cases of familial BBS--two sisters and one brother (66, 64 and 51 years of age, respectively)--with the main cardinal findings of the disease plus a classic 'metabolic syndrome' (characterized by abdominal obesity, atherogenic dyslipidaemia, raised blood pressure, insulin resistance with or without glucose intolerance, and prothrombotic risk and proinflammatory states). One female patient (not affected by reproductive dysfunction) had three healthy offspring, while the other two patients were unmarried. Another severely affected brother died at 70 years of age; two other brothers are lean but affected by nephropathy, retinopathy, slight mental retardation, polydactyly, hypertension and thrombotic diseases, and had healthy offspring. BBS is a rather rare but severe syndrome that is often mis- or undiagnosed. Ophthalmologists, endocrinologists and nephrologists should be aware of BBS because of its adverse prognosis--early onset of blindness, associated findings of metabolic syndrome and increased vascular risk, and severe renal impairment (the most frequent cause of reduced survival and death early in life).

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“…Vaginal atresia [Klein and Ammann, 1969;Nadjimi et al, 1969;Cramer et al, 1988;Green et al, 1989;Stoler et al, 1995] Autosomal recessive del(1)(q12) Growth and metnal retardation, facial anomalies, neural tube defects, absence of corpus callosum…”

Section: Transverse Vaginal Septamentioning

confidence: 99%

Genetics of the female reproductive ducts

Simpson

2000

Am. J. Med. Genet.

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Familial aggregates of the most common disorders of müllerian differentiation in females-Müllerian aplasia, incomplete Müllerian fusion-are best explained on the basis of polygenic/multifactorial inheritance. No information exists on the number and chromosomal location of responsible genes. Single mutant genes (Mendelian) are responsible for the McKusick-Kaufman syndrome (MKS) and the hand-foot-genital syndrome. The molecular basis for the latter condition involves HOXA13, but the molecular basis of MKS and other disorders of the female reproductive ducts is unknown. Vaginal atresia, Müllerian aplasia, and incomplete Müllerian fusion are not infrequently observed in malformation syndromes.

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Sonographic and urographic correlation in Bardet-Biedl syndrome (Formerly Laurence-Moon-Biedl Syndrome)

Cited by 20 publications

References 8 publications

Genital abnormalities in females with Bardet‐Biedl syndrome

Genital abnormalities in females with Bardet‐Biedl syndrome

A review of the literature of Bardet–Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty

Genetics of the female reproductive ducts

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