Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency.
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.
Schönau
E
E
Universitätsklinik für Kinder und Jugendliche, Erlangen, Federal Republic of Germany.
Pfeiffer
R A
RA
Schweikert
H U
HU
Böwing
B
B
Schott
G
G
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
D011944:Receptors, Androgen