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Laurence-Moon-Biedl综合征是一种少见的疾病,笔者发现一家兄妹6人中3人患有本病,现报告如下: 例1 修x花女 34岁门诊号63617。患者出生时即被发现显著肥胖,手足多指(趾),5岁后发现视物不好,夜间视力更差,逐年加重,因智力低下,未能入学,近5年来已不辨走路,于1981年5月18日来院初诊。患者于五年前结婚,生2胎,第一胎男婴2月后病故,第二胎男婴除有双足内翻外未发现其他病征。体检:身高148厘米,体重65公斤,血压130/70mmHg,神情淡漠,躯体活动不
Laurence-Moon-Biedl syndrome is a rare disease, I found a sibling 6 people in 3 people suffering from the disease, are reported as follows: Example 1 Xiu female flower 34-year-old outpatient number 63617. Patients were found to be significantly obese at birth, hand, foot and more fingers (toe), after 5 years of age found that poor visual acuity, worse night vision, increasing year by year, due to mental retardation, failed to enroll in the past 5 years has not been identified walking, at May 18, 1981 to the hospital first visit. The patient was married five years ago with two births and the first baby boy died two months later. The second baby boy had no other symptoms other than having bipedal varus. Physical examination: height 148 cm, weight 65 kg, blood pressure 130 / 70mmHg, apathy, physical activity is not