The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
The Cardinal Manifestations of Bardet–Biedl Syndrome, a Form of Laurence–Moon–Biedl Syndrome
Abstract
To determine the interfamilial and intrafamilial variation in the expression of the Bardet-Biedl syndrome (a form of Laurence-Moon-Biedl syndrome), we looked for the five recognized features of the disorder (retinal dystrophy, obesity, polydactyly, mental retardation, and hypogonadism), plus possible renal manifestations, in some or all of 32 patients with this disorder. All 28 patients examined had severe retinal dystrophy, but only 2 had typical retinitis pigmentosa. Polydactyly was present in 18 of 31 patients, but syndactyly, brachydactyly, or both were present in all. Obesity was present in all but 1 of 25 patients. Only 13 of 32 patients were considered mentally retarded. Scores on verbal subtests of intelligence were usually lower than scores on performance tasks. Seven of eight men had small testes and genitalia, which was not due to hypogonadotropism. All 12 women studied had menstrual irregularities, and 3 had low serum estrogen levels (1 of these had hypogonadotropism, and 2 had primary gonadal failure). The remaining women who were of reproductive age had endocrinologic evidence of reproductive dysfunction. Diabetes mellitus was present in 9 of 20 patients. Renal structural or functional abnormalities were universal (n = 21), and three patients had end-stage renal failure. We conclude that the characteristic features of Bardet-Biedl syndrome are severe retinal dystrophy, dysmorphic extremities, obesity, renal abnormalities, and (in male patients only) hypogenitalism. Mental retardation, polydactyly, and hypogonadism in female patients are not necessarily present.
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Cites
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Mutations in MKKS cause Bardet-Biedl syndrome
Slavotinek, A. M., Stone, E. M., Mykytyn, K., Heckenlively, J. R., Green, J. S., Heon, E., Musarella, M. A., Parfrey, P. S., Sheffield, V. C., & Biesecker, L. G. (2000) · Nature Genetics · doi:10.1038/79116 · Cited by 275
Self-citationIdentification of the gene that, when mutated, causes the human obesity syndrome BBS4
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Systemic Diseases Associated with Retinal Dystrophies
Werdich, X. Q., Place, E. M., & Pierce, E. A. (2014) · Seminars in Ophthalmology · doi:10.3109/08820538.2014.959202 · Cited by 54
Metadata
- Authors
- Green, J. S., Parfrey, P. S., Harnett, J. D., Farid, N. R., Cramer, B. C., Johnson, G., Heath, O., McManamon, P. J., O'Leary, E., & Pryse-Phillips, W.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1989-10-12
- Volume
- 321
- Issue
- 15
- Pages
- 1002-1009
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2316411244
- Cited by
- 555
- References
- 13
- FWCI
- 2.51
- Type
- journal article
- Language
- en
- Open access
- closed
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