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患儿女性2岁。系第一胎第一产,过月产,无窒息史,出生体重4kg。现不能示意大小便或饥饿,但可扶站,可发音“爸”,“妈”,构音不清。母亲妊娠期曾患“感冒”。体检:体重10kg,身长77cm,头围46cm,营养发育欠佳、神志清,不活泼,头发黄而细,前囟稍凹,约2×2cm。五官无畸形,外生殖器幼女型。辅助检查:血钙3.0mmol/L;双腕关节正位片示出现腕骨化骨核中心两枚。口腔粘膜X 小体阳性细胞率5.6%,其中见三个细胞内有两个X 小体。外周血染色体核型47,XXX。
Children 2 years old. Department of the first birth of the first birth, over-production, no history of asphyxia, birth weight 4kg. Now we can not show that we are urinating or urinating. However, we can help you to stand by and pronounce “Dad” and “Mom,” with unclear articulation. Mother had “cold” during pregnancy. Physical examination: weight 10kg, length 77cm, head circumference 46cm, poor nutrition, conscious, not lively, yellow and thin hair, slightly concave anterior fontanelle, about 2 × 2cm. Facial features deformity, external genital apparatus type. Auxiliary examination: blood calcium 3.0mmol / L; dual wrist anteroposterior radiographs showed two centers of the calcification of the nucleus. Oral mucosal X-positive cells rate of 5.6%, of which there are three cells in the three X-bodies. Chromosome karyotype 47, XXX.