rss
J Med Genet 39:e50 doi:10.1136/jmg.39.9.e50
  • Electronic letters

Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome

Table 3

Additional findings in the ischio-pubic-patella syndrome compared with the five cases presented

Finding This report (n=5) Sandhaus et al3 (n=1) Koslowski and Nelson4 (n=1)* Habboub and Thneibet5 (n=1) Azouz and Koslowski6 (n=1)
+ present; − absent; ? not mentioned in report.
*Two patients were reported in this paper, But detailed clinical and radiological findings were only available in one (patient 1), and it is the findings in this patient that are summarised here.
†TEV = talipes equinovarus.
‡Mansour et al.7
§A third patient had bilateral clavicular hooks suggestive of radial ray abnormalities such as dislocated radial heads, but unfortunately elbow and forearm views were not available to confirm this.
Scapula
    Winged 2/4 + +
    Hypoplastic or dysplastic 4/4 +
    Low lying –/4 +
Spine
    Mild/moderate scoliosis 2/5 + ?
    Severe scoliosis 3/5 ?
    Kyphosis 2/5 ? +
    Lumbar lordosis 3/5 + + ?
Dysraphism
    Cervical 4/4 + ?
    Thoracic 1/4 ?
    Lumbar 3/5 ? +
    Sacral –/5 + ?
Feet
    Broad –/2 + ?
    Brachydactyly 2/2 + ?
    Sandal gap –/2 + ?
    Pes planus –/2 + ?
    TEV† –/2 + ?
Mild bowing of tibia and fibula 2/2 ?
Relatively short fibula 2/2 ?
Antegonial mandibular notch‡ 1/1 ? ? ?
Dysmorphic face 5/5 + +
Hypoplastic phalanges of hands 2/2 + ? +
Flattened/absent epiphyses 4/5 + ?
Dislocated/subluxed radial heads 2/2§ + ?
Cleft/high palate 2/5 + + + +
Hyperlaxity of joints –/5 +
Motor delay 2/5 + +
Speech delay 3/5 +
Recurrent childhood respiratory infections 4/5 + +

This Article

Free sample
This recent issue is free to all users to allow everyone the opportunity to see the full scope and typical content of JMG.
View free sample issue >>

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

  • Latest genetics jobs

    Latest genetics jobs