title: Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency.
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.
authors.affiliation: Universitätsklinik für Kinder und Jugendliche, Erlangen, Federal Republic of Germany.
authors.forename: E
authors.initials: E
authors.lastname: Schönau
authors.forename: R A
authors.initials: RA
authors.lastname: Pfeiffer
authors.forename: H U
authors.initials: HU
authors.lastname: Schweikert
authors.forename: B
authors.initials: B
authors.lastname: Böwing
authors.forename: G
authors.initials: G
authors.lastname: Schott
mesh_terms: D000015:Abnormalities, Multiple; D001132:Arm / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009095:Mullerian Ducts / Q000002:abnormalities; D011944:Receptors, Androgen / Q000172:deficiency*; D013577:Syndrome
chemical_list: D011944:Receptors, Androgen