Table 3 Comparison between pre- and postnatal findings and diagnosis
Infant | Prenatal | Postnatal | ||
|---|---|---|---|---|
findings | diagnosis | findings | diagnosis | |
1 | Shortening and bowing of long bones, Fractures of femur and ribs | OI | Shortening and bowing of long bones, Fractures of femur and ribs | OI |
2 | Shortening and bowing of long bones, hydramnios | OI | Shortening and fractures of long bones | OI |
3 | Shortening and bowing of long bones, Narrow thorax, Megalencephaly | OI | Shortening and bowing of long bones, Rib fractures, Narrow thorax, Facial dysmorphy | OI |
4 | Shortening of long bones, Narrow thorax, Megalencephaly | TD | Rhyzomelic shortening of long bones, Bowing of long bones, Narrow thorax, Megalencephaly, Platyspondylia | TD |
5 | Shortening and bowing of long bones Long bones fractures Narrow thorax, Megalencephaly Hydramnios | TD | Shortening and bowing of long bones, Megalencephaly, Frontal bossing, Narrow thorax, Platyspondylia, Trident hand | TD |
6 | Shortening of long bones, Narrow thorax | ACH or HCH | Shortening of long bones, Narrow thorax | ACH |
7 | Shortening of long bones, Narrow thorax | ACH | Shortening of long bones, Narrow thorax | ACH |
8 | Shortening of long bones, Narrow thorax Trident hand | ACH | Shortening of long bones, Frontal bossing, Narrow thorax, Trident hand | ACH |
9 | Shortening of long bones, Narrow thorax | ACH | Shortening of long bones, Narrow thorax | ACH |
10 | Shortening of long bones, Narrow thorax, Trident hand | ACH | Shortening of long bones, Frontal bossing, Narrow thorax, Trident hand, Facial dysmorphy of Down syndrome | ACH Trisomy 21 |
11 | Shortening of long bones | ACH or HCH | Shortening of long bones, Frontal bossing | HCH |
12 | Shortening and bowing of long bones Hypoplastic scapulae | CD | Shortening and bowing of long bones, Hypoplastic scapulae | CD |
13 | Shortening and bowing of long bones Mild curvature with scapular hypoplasia Club feet | OI | Bowing of long bones, Club feet, Hypoplastic scapulae, Rib fractures, Ambiguous genitalia, Facial dysmorphy | CD |
14 | Dislocation of elbow and knee, Club feet Radioulnar synostosis | Desbuquois disorder | Dislocation of shoulder, elbow, Articulation coxae and knee, Facial dysmorphy, Scoliosis, brevicollis | Desbuquois disorder |
15 | Shortening of long bones Hyperdactylia CHD (AVSD, single atrium) | Elis-van Creveld syndrome | Shortening of long bones, Narrow thorax, Hyperdactylia, CHD (AVSD, single atrium) | Elis-van Creveld syndrome |
16 | Shortening of long bones, Narrow thorax | HPP | – | HPP |
17 | Shortening of long bones, Narrow thorax, hydramnios | HPP | Shortening of long bones, Narrow thorax, Hypoplasia of lung, Low levels of serum ALP | HPP |