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患者女,17岁,汉族。因无恒牙萌出,颌面和乳牙畸形于1985年4月19日来我院门诊。体检:营养一般,智力正常。头发棕黄色,纤细,额部发稀少。皮肤、指、趾甲正常。乳房发育良好.甲状腺轻度肿大,心脏腹无阳性体征.四肢脊柱无畸形。上下颌骨发育不良,面下1/3短缩;上下牙槽骨低窄;上颌腭小,腭顶线平,咬合关系异常.现有上颌双尖牙、下颌侧切牙、尖牙和双尖牙均为乳牙,且多数变形,下颌切牙和尖牙呈圆锥形变形.X线头颅片示上颌发育不良,骨质较疏松;上颌双尖牙、下颌切牙、尖牙和双尖牙均为乳牙,无牙区及牙槽嵴。患者父母为三代内近亲婚姻,患儿祖父、祖母系姑表兄妹婚配.患者同胞5人,均体健,其中唯一之男性智力迟钝.余无其它明显遗传异常.
Female patient, 17 years old, Han nationality. Because no permanent eruption, maxillofacial and primary deformities in April 19, 1985 came to our hospital. Physical examination: general nutrition, normal intelligence. Brown hair, slender, forehead hair scarce. Skin, fingers and nails are normal. Well-developed breasts, mild enlargement of the thyroid gland, no positive signs of heart abdomen. Upper and lower jaw dysplasia, face 1/3 shortening; upper and lower alveolar bone narrow; maxillary palate, palatal line flat, occlusal abnormalities existing maxillary bicuspid, mandibular lateral incisors, canines and double-pointed Most of the teeth were deciduous, and the majority of deformation, mandibular incisors and canine conical deformation .X-ray head showed maxillary dysplasia, osteoporosis more loose; maxillary bicuspid, mandibular, canine and bicuspidate For deciduous teeth, toothless area and alveolar ridge. Patient's parents were three generations of kinship marriages, children's grandfather, grandmother's cousin marriage.Patients with siblings 5, are healthy, of which the only male mental retardation. I no other obvious genetic abnormalities.