Table 1

Clinical presentation in seven patients with the genitopatellar syndrome

		Cases		Total
		1	2	Total		3	4	5	6	7
Family history	−	−	+	Case 3 brother	+	Case 5 brother	−	2/7
Prenatal ultrasound		−		−		Kidney anomalies		Kidney anomalies	−		−	Kidney anomalies	3/7
Prenatal ultrasound		−		−		Kidney anomalies		Microcephaly at 21 wk	−		−	Microcephaly at 24 wk	2/7
Karyotype	46,XX	46,XY	46,XY	46,XY	46,XY	46,XY	46,XY	6M/1F
Absent patella	+	+	+	+?	+	+	+?	7/7
Flexion deformities
Hips	+	+	+	+	+	+	+	7/7
Knees	+	+	+	+	+	+	+	7/7
Club feet	+	+	+	+	+	+	+	7/7
Genital anomalies								7/7
Clitoral hypertrophy	+	−	−	−	−	−	−
Scrotal hypoplasia	−	+	+	+	+	+	+
Cryptorchidism	−	+	+	+	+	+	+
Renal anomalies	Hydronephrosis	Multicystic kidneys Hydronephrosis	Hydronephrosis	Ureterohydronephrosis Multicystic kidneys	Hydronephrosis	Ureterohydronephrosis	Multicystic kidneys Hydronephrosis	7/7
Dysmorphic features								7/7
Coarse face	+	+	+	+	+	+	+
Broad nose	+	+	+	+	+	+	+
Micrognathia	−	+	−	+	+	−	+
Hypotonia	+	+	+		+	+		5/5
Microcephaly	+	+	+	+	+	+	+	7/7
Agenesis of corpus callosum	+	+	−	+	?	−	+	4/7
Pulmonary hypoplasia	?	+	−	+	?	−	+	3/7
Respiratory distress	+	+	−		+	−		3/5
Outcome	Death 3 y Apnoea Not walking No speech	Death (day 15) Apnoea	10 y Not walking No speech	Pregnancy terminated at 27 weeks' gestation	“Sudden” death (6 mth)	12 y Not walking No speech	Pregnancy terminated at 28 weeks' gestation	Death 5/7