Laurence-Moon-Bardet-Biedl syndrome in Israel.
Laurence-Moon-Bardet-Biedl syndrome in Israel.
复制标题
以色列的劳伦斯-穆恩-巴代-比德尔综合症。
DOI：
10.1016/0002-9394(70)90885-8
复制
发表时间：
1970
影响因子：
4.2
通讯作者：
E. Auerbach
中科院分区：
文献类型：
--
作者：
E. Ehrenfeld;H. Rowe;E. Auerbach
这18名患者（包括3名死亡的婴儿）来自12个家庭，其中9个是犹太人，3个是阿拉伯人，其中11个是男孩。体格检查结果总结见表2。在八个家庭轮胎的父母是第一堂兄弟姐妹，并在其中一个额外的通婚被发现占主导地位。10名犹太患者出生在以色列，3名在国外（2名在罗马尼亚，1名在阿尔及利亚）。这些阿拉伯病人都出生在这个国家。除了基数五元组，其他异常被发现在几个病人。在一个病人，在眼睛中发现的病理变化，显然是没有联系的tapetoretinal变性。另外两名患者患有先天性心脏病，两名患有肾脏疾病，另一名患有单侧髋关节脱位（表1和表2）。这种病变也被发现在另一个病人的妹妹，谁没有表现出LMBB的迹象。所有的病人检查夜盲。他们都有先天性四肢畸形，生殖器发育不良和智力缺陷。他们也很肥胖。所有人都有多指（趾）畸形，有时至少有一个肢体并指（趾）畸形。多余的手指总是很短。在某些情况下，患肢的其他两个或三个手指也异常短。多指多为轴后型。似乎更倾向于在尺侧增加一个手指，在脚的外侧增加一个脚趾。
RESULTSThe 18 patients (including the three deceased infants) descended from 12 families, nine of which were Jewish and three Arab. Of these, 11 were boys. Physical findings are summarized in Table 2. In eight families tire parents were first cousins, and in one of these an additional intermarriage was found in the ascendancy. Ten of the Jewish patients were born in Israel and three abroad (two in Rumania, one in Algeria). The Arab patients were all born in this country. In addition to the cardinal pentad, other abnormalities were found in several patients. In one patient, pathologic changes in the eyes were found which apparently were not connected with the tapetoretinal degeneration. Two other patients had congenital heart disease, two had kidney disease, and another had unilateral hip luxation (Tables 1 and 2). This lesion was also found in a sister of another patient, who showed no sign of the LMBB.All patients examined were night-blind. They all had congenital malformations of their extremities, hypogenitalism and were mentally defective. They were also obese. All had polydactyly, sometimes syndactyly in at least one extremity. The supernumerary digit was always very short. In some cases, two or three other digits of the affected limb were also abnormally short. The polydactyly usually was of the postaxial type. There seemed to be a preference for an additional finger at the ulnar side, and of an additional toe at the lateral side of the foot.