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,XY	Not available for analysis	S351C	Normal male
ID (20554)	46,XX	Normal	S351C	Normal female
HD (14506)	46,XX	Normal	S351C	Normal female
MN (15441)	46,XY	Normal	C342R	Normal male
MR (14837)	46,XX	Not available for analysis	P276V	Normal female
DW (11314)	46,XX	Normal	C342S	Normal female
MA	46,XY	Abnormal	T290C	Normal male
JH (24019)	46,XX	Abnormal	None established	Vestigial uterus30
				Small vagina
				Vulval septum
SP (14683)	46,XX	Abnormal	None established	Clitoromegaly (1 cm)
				Hooded prepuce
				Fused labia
				(fig 1)
BM	46,XX	Abnormal	Not available for analysis	Clitoromegaly
				Fused labia
BW (24872)	46,XY	Abnormal	None established	Normal male
DK	46,XX	Abnormal	Not available for analysis	Ambiguous genitalia
				Fused labia
				Clitoromegaly
MJ	46,XX	Abnormal	Not available for analysis	Ambiguous genitalia
				Chordee
KM	46,XX	Normal	None established	Normal female
RS	46,XX	Normal	None established	Normal female
MF	46,XX	Normal	None established	Normal female29