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Robinow or “fetal face syndrome” in a male infant with ambiguous genitalia and androgen receptor deficiency |
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| Authors: | E. Schönau R. A. Pfeiffer H. U. Schweikert B. Böwing G. Schott |
| Affiliation: | (1) Universitätsklinik für Kinder und Jugendliche, D-8520 Erlangen, Federal Republic of Germany;(2) Institut für Humangenetik, D-8520 Erlangen, Federal Republic of Germany;(3) Poliklinik der Medizinischen Universitätsklinik, D-5300 Bonn, Federal Republic of Germany;(4) Urologische Klinik, D-8520 Erlangen, Federal Republic of Germany;(5) Klinik für Pädiatrie der Medizinischen Universität Lübeck, Kahlhorststrasse 31-35, D-2400 Lübeck, Federal Republic of Germany |
| Abstract: | 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.Dedicated to Professor Dr. K. Stehr on the occasion of his 60th birthday |
| Keywords: | Robinow syndrome Fetal face syndrome Androgen receptor deficiency Persistence of Mullerian ducts |
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