Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency.
EUROPEAN JOURNAL OF PEDIATRICS(1990)
摘要
Typical features of the “fetal face” or Robinow syndrome are reported in a male infant who presented with ambiguous genitalia and persistence of the Mullerian ducts. Histology of the testes was normal whereas endocrinological studies showed partial deficiency of androgen receptors.
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关键词
robinow syndrome,androgen receptor deficiency,persistence of mullerian ducts,fetal face syndrome,androgen receptor
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