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先证者,男,2岁,因双侧腹股沟斜疝就诊,系足月顺产,第一胎,第一产。生后即发现枕后部和左后背部皮下肿物和皮肤大片状牛奶咖啡斑。且随年龄增长而增大。平素体弱多病,智力欠佳。其外祖母患有神经纤维瘤病,具有典型的皮下肿物和大片状牛奶咖啡斑,外祖父代共生三女四男,其中第二胎和第四胎(先证者其母)发病,均为女性,表现型同外祖母。孙代一男(先征者)和一女(表现型为其臀部有一直径为8.0cm大小的园形深棕色牛奶咖啡斑,无皮下肿瘤)二人发病。除先证者外智力均正常。体检:发育营养差,神清,表情呆板,眼球微突出,耳位较低,高腭弓。颈短,颌
Proof of the card, male, 2 years old, due to bilateral inguinal hernia treatment, full-term follow-up of abortion, the first child, the first production. After birth that is found in the back of the pillow and back of the back of the subcutaneous mass and skin flaky milk coffee spots. And with age and increase. Usually frail, poor intelligence. His grandmother suffered from neurofibromatosis, with typical subcutaneous tumor and large sheet of milk coffee spots, three grandparents symbiotic three women and four men, of which the second and the fourth child (proband their mother) were Female, phenotype with foreign grandmother. The offspring were male (first constellation) and one female (phenotypic was brown dark brown coffee with a diameter of 8.0 cm on the buttocks, without subcutaneous tumor). Except for the proband, intelligence was normal. Physical examination: development of poor nutrition, God clear, facial expression dull, slightly prominent eye, ear low, high palatal arch. Short neck, jaw