未确诊的苯丙酮尿症母亲所生双胞胎中的苯丙氨酸致胎儿病（作者译）
[Phenylalanine-fetopathia in twins of an undiagnosed phenylketonuric mother (author's transl)].
作者信息
Müller W D, Haidvogl M, Scheibenreiter S
出版信息
Klin Padiatr. 1979 Nov;191(6):609-12.
PMID:574596
Abstract
A case report of microcephalic twins born to a hithertoo undedected phenylketonuric mother is given. The female twin suffered from phenylketonuria, too. The clinical findings included microcephaly, growth retardation, retarded bone age and an unusual facies. The psychomotor development was retarded in both twins, but more so in the phenylketonuric twin despite appropriate low phenylalanine diet.
摘要
本文报告一例小头畸形双胞胎病例，其母亲此前未被检测出患有苯丙酮尿症。女性双胞胎也患有苯丙酮尿症。临床症状包括小头畸形、生长发育迟缓、骨龄延迟和特殊面容。尽管采用了适当的低苯丙氨酸饮食，两个双胞胎的精神运动发育均迟缓，但苯丙酮尿症双胞胎的情况更为严重。
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[Phenylalanine-fetopathia in twins of an undiagnosed phenylketonuric mother (author's transl)].未确诊的苯丙酮尿症母亲所生双胞胎中的苯丙氨酸致胎儿病（作者译）
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