Prenatal diagnosis is possible using ultrasound imaging of long bone bowing, small scapulae, clubfeet and ambiguous genitalia. The diagnosis is confirmed at birth or can be confirmed with molecular testing from an aminocentesis sample.
If the diagnosis is suspected, a chromosome analysis should be done. Phenotypic females may have a 46XY karyotype.
After birth, a physical and radiographic evaluation can make the diagnosis. Molecular testing can be done to confirm the diagnosis.