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患者男,9岁,住院号26474。1987年3月13日因自出生后肥胖、多食易饥,发音不清、智力差,近1年多来尤为明显且伴有夜盲而住院。3岁时曾患“肾炎”治愈。患儿为第3胎足月顺产,母乳喂养。父母为曾祖表兄妹。患者之二姐有24指趾畸形(12指及12趾),出生后数小时死亡,死因不明。体检:身高1.25米,体重40公斤。神清,呆笨状,检查时而合作,时而拒检。发音欠清晰。计算力差,不能用实物数出6以上的数目,不识字。体型肥胖,有满月脸,腹部膨满,有大量皮下脂肪,无水牛背及紫纹。心肺肝脾及神经系统均未查及异常。外生殖器比同龄儿童
Male patient, 9 years old, hospital number 26474. March 13, 1987 because of obesity after birth, eat more easily hungry, poor articulation, poor intelligence, more than a year has been particularly evident and accompanied by night blindness and hospitalization. 3 years old suffering from “nephritis” cure. Children with third-term full-term fetus, breastfeeding. Parents as great cousins. The second sister of the patient has 24 digit deformities (12 fingers and 12 toes), a few hours after birth, and the cause of death is unknown. Physical examination: height 1.25 meters, weight 40 kg. Clear, stupid, check and cooperation from time to time, and sometimes refuse to seized. The pronunciation is not clear. Calculate the power difference, can not use the physical number of more than 6 the number of illiterate. Body fat, a full moon face, belly bulge, a large number of subcutaneous fat, anhydrous beef back and purple lines. Cardiopulmonary liver and spleen and nervous system were not detected abnormalities. External genitalia than their peers