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患儿,男,14岁。因学习成绩差就诊。足月第一胎,羊水少,脐绕颈,青紫窒息。出生体重9斤,出生时,右耳呈黑色。患儿出生6月后,易患病,5岁时,右耳突然长大并长毛。矮小,头围62cm血压90/60mmHg。讲话鼻音重,面颅大,头颈小,眼距宽。右耳长7cm,宽33cm,厚1.5cm,右耳呈黑色并长毛。左耳长6.3cm,宽3cm,厚1cm。前发际低、颈短,蹼颈。左眉上,右枕后可模及软长索条状结节,左右下颌模及5个与皮肤本色结节,右耳后,可见3个蚕豆大结节。小下颌,高窄腭,牙列不齐。大舌,舌深裂纹。漏斗胸,全身皮肤可见多数牛奶咖啡斑,以躯干部多见,其中有17个直径1.5cm以上的大咖啡斑。右腋下可见一不规则形大雀斑,龟头可见一黑色素点。皮肤常感搔痒,肛门上可见0.5×0.8cm带蒂的瘤。包茎,睾丸大。视力,右0.8;
Children, male, 14 years old. Due to poor academic performance. Full-term first child, less amniotic fluid, umbilical cord around the neck, cyanosis suffocation. Birth weight 9 pounds, at birth, the right ear was black. After the child was born in June, she was susceptible to the disease. At the age of 5, the right ear suddenly grew and grew hairy. Short, head circumference 62cm blood pressure 90/60mmHg. The speech is heavy nasal, face is large, head and neck are small, and the distance between eyes is wide. The right ear is 7cm long, 33cm wide, and 1.5cm thick. The right ear is black and long-haired. The left ear is 6.3cm long, 3cm wide, and 1cm thick. The previous hairline was low, the neck was short, and the neck was necklined. On the left eyebrow, the right posterior occipital can be modeled with soft long cord-like nodules, left and right mandibular phantoms and 5 nodules with skin color. After the right ear, 3 large nodules of broad bean can be seen. Small jaws, high narrow jaws, missing teeth. Big tongue, deep cracked tongue. Funnel chest, the body skin can see most of the milk coffee spot, more common in the trunk, including 17 large coffee spots with a diameter of 1.5cm or more. A large irregular freckled spot can be seen under the right iliac crest, and a melanin spot can be seen on the glans. The skin is often pruritic and there are 0.5 x 0.8cm pedunculated tumors on the anus. Phimosis, large testis. Vision, right 0.8;