Table 1

Summary of clinical, biochemical, and molecular findings in 16 patients with Antley-Bixler syndrome

Patient Chromosomes Steroid profile FGFR2 mutation Genitalia
NC (16666)46,XYNot available for analysisS351CNormal male
ID (20554)46,XXNormalS351CNormal female
HD (14506)46,XXNormalS351CNormal female
MN (15441)46,XYNormalC342RNormal male
MR (14837)46,XXNot available for analysisP276VNormal female
DW (11314)46,XXNormalC342SNormal female
MA46,XYAbnormalT290CNormal male
JH (24019)46,XXAbnormalNone establishedVestigial uterus30
Small vagina
Vulval septum
SP (14683)46,XXAbnormalNone establishedClitoromegaly (1 cm)
Hooded prepuce
Fused labia
(fig 1)
BM46,XXAbnormalNot available for analysisClitoromegaly
Fused labia
BW (24872)46,XYAbnormalNone establishedNormal male
DK46,XXAbnormalNot available for analysisAmbiguous genitalia
Fused labia
MJ46,XXAbnormalNot available for analysisAmbiguous genitalia
KM46,XXNormalNone establishedNormal female
RS46,XXNormalNone establishedNormal female
MF46,XXNormalNone establishedNormal female29