Paediatric Imaging

Saldino noonan syndrome

(also called short rib polydactyly syndrome, type I), (R.M. Saldino, 20th century, American radiologist; Anne Noonan, 20th century, American paediatrician), a lethal form of dysplasia with autosomal recessive inheritance and seen more often in females. Clinically, it has the following features: dolichocephaly, micrognathia, short narrow thorax due to the short ribs, severe micromelia, brachydactyly and both postaxial and preaxial polydactyly. There are associated cardiac, renal, gastrointestinal and and genitourinary anomalies. The lungs are hypoplastic. Radiology: there is dolichocephaly, poor skull vault mineralization, mandibular and scapular hypoplasia, short ribs, polydactyly and short tubular bones with ragged ends, and pointed femora and absent fibulae (Fig.1).

HC

To view high resolution images,
please register first.

Click  here to register.

Already registered? Enter your e-mail in the window below.
Re-register

Fig.1

Still born baby with (a) AP and (b) lateral images shows the short horizontal ribs, small pelvis with a wide triradiate cartilage and spurring at the sacrosciatic notch, short tubular bones with ragged metaphyses. The poorly formed fingers are visible on the lateral view.
Saldino noonan syndrome, Fig.1 (a)
Saldino noonan syndrome, Fig.1 (b)