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现在产前至少可以诊断出19种骨骼发育不良疾病。实际上所有报告均包含已有一个受累儿童家庭的复发情况。几乎不可能为一个骨骼异常患儿专门建立特殊的产前诊断,而缺失桡骨的血小板减少(Thrombocyto-penia ahsent radius,TAR)综合征的诊断则是例外。TAR 具有缺失桡骨、血小板减少,其他骨骼异常及常染色体隐性遗传等特点,超声可探明对称性的上肢海豹肢和不对称性的下肢短小,脐带穿刺可诊断血小板减
Prenatal diagnosis of at least 19 kinds of skeletal dysplasia diseases. In fact, all reports include the recurrence of families with one affected child. It is almost impossible to establish a special prenatal diagnosis of a skeletal abnormality in children, with the exception of the diagnosis of a thrombocytopenia-associated thrombocytopenia (TAR) syndrome. TAR has the characteristics of missing radius, thrombocytopenia, other skeletal abnormalities and autosomal recessive inheritance. Ultrasonography can identify symmetrical upper limb seals and asymmetrical lower limbs. Umbilical cord puncture can diagnose thrombocytopenia