Clinical data and pathological findings in the four siblings
| Sex | ||||
|---|---|---|---|---|
| Male | Female | Male | Female | |
| Gestational age (wk) | 35 | 21 | 30 | 19 |
| Weight (g) | 970 | 105 | 740 | 72 |
| Head circumference (cm) | 32 | 16.2 | 29 | 12.7 |
| FADS | Polyhydramnios | Normal amount of amniotic fluid | Polyhydramnios | Normal amount of amniotic fluid |
| Bilateral talipes | Fixed anteflexion of hips | Bilateral talipes | Fixed anteflexion of hips | |
| Robin sequence (microretrognathia-cleft palate) | Bilateral talipes | Pulmonary hypoplasia | Microretrognathia | |
| Pulmonary hypoplasia | Robin sequence | |||
| Limbs | Right foot: proximal syndactyly toes II–III | – | Bilateral ectrodactyly of hands with superdigit type I | – |
| Left foot: proximal syndactyly toes II–III/IV–V | ||||
| Genital | (Cryptorchidism) (Hypospadias) | Rokitansky sequence | Micropenis | – |
| (Cryptorchidism) (Hypospadias) | ||||
| Kidneys | – | – | Renal hypoplasia | Cortical/medullar dysplasia |
| Cortical/medullary dysplasia | ||||
| Adrenal | – | – | Adrenal hypoplasia | – |
| Intestines | Intestinal non-fixation | – | Intestinal non-fixation | – |
| Karyotype (T banding) | 46, XY | 46,XX | 46,XY | 46,XX |