THE CARDINAL MANIFESTATIONS OF BARDET-BIEDL SYNDROME, A FORM OF LAURENCE-MOON-BIEDL SYNDROME
THE CARDINAL MANIFESTATIONS OF BARDET-BIEDL SYNDROME, A FORM OF LAURENCE-MOON-BIEDL SYNDROME
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DOI：
10.1056/nejm198910123211503
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发表时间：
1989-10-12
影响因子：
158.5
通讯作者：
PRYSEPHILLIPS, W
中科院分区：
文献类型：
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作者：
GREEN, JS;PARFREY, PS;PRYSEPHILLIPS, W
为了确定 Bardet-Biedl 综合征（Laurence-Moon-Biedl 综合征的一种形式）表达的家族间和家族内变异，我们在 32 名患有该疾病的部分或全部患者中寻找该疾病的 5 个公认特征（视网膜营养不良、肥胖、多指、智力迟钝和性腺功能减退），以及可能的肾脏表现。所有接受检查的 28 名患者均患有严重视网膜营养不良，但只有 2 名患者患有典型的视网膜色素变性。 31 名患者中有 18 名存在多指，但所有患者均存在并指、短指或两者兼而有之。除了 25 名患者中的 1 名外，所有患者均患有肥胖症。 32 名患者中只有 13 名被认为是弱智。智力言语子集的得分通常低于表现任务的得分。八名男性中有七人的睾丸和生殖器较小，这并不是由于促性腺激素低下所致。研究的所有 12 名女性均患有月经不调，其中 3 名女性血清雌激素水平较低（其中 1 名女性促性腺激素低下，2 名女性原发性性腺功能衰竭）。其余育龄妇女有生殖功能障碍的内分泌证据。 20 名患者中有 9 名患有糖尿病。肾脏结构或功能异常很普遍（n = 21），其中 3 名患者患有终末期肾功能衰竭。我们得出结论，Bardet-Biedl 综合征的特征是严重视网膜营养不良、四肢畸形、肥胖、肾脏异常和（仅限男性患者）生殖器功能减退。女性患者不一定存在智力低下、多指畸形和性腺功能减退症。
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 subsets 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 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.