Sonographic findings | N | Gene | Final Diagnosis |
---|---|---|---|
*Short ribbed skeletal dysplasia | 4 | FGFR3 | Thanatophoric dysplasia (TD) (4) |
3rd trimester short long bones | 10 | FGFR3 | Achondroplasia (5), IUGR (5) |
Abnormal skull and hands | 1 | FGFR2 | Apert syndrome |
Bowed femurs, female genitalia | 2 | SRY | Male fetus with campomelic dysplasia (2) |
Multiple anomalies, abnormal genitalia | 1 | SRY | Smith Lemli Optiz syndrome |
Bladder exstrophy | 1 | SRY | Male with bladder exstrophy |
Ambiguous genitalia | 1 | SRY | Severe hypospadias |