Skip to main content
. 2020 Oct 8;21:662. doi: 10.1186/s12891-020-03663-x

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

ACH achondroplasia, AVSD atrial ventricular septal defect, CD campomelic dysplasia, CHD congenital heart disease, HCH hypochondroplasia, HPP hypophosphatasia, OI osteogenesis imperfecta, TD thanatophoric dysplasia