Table 1

A comparison of the clinical facial features and complications in the five patients presented

Facial features
+ = feature present, ? = not known.
Flat face5/5
Long philtrum5/5
Depressed nasal bridge5/5
Relative macrocephaly5/5
KyphoscoliosisMild thoracic scoliosisYes, moderate, progressiveYes, severe and progressiveYes, severe and progressiveYes, severe and progressive
Developmental delayNoModerateGross motor delay onlyMild to moderate, globalMild to moderate, global
Short stature<3rd centile<3rd centile<3rd centile<3rd centile<3rd centile
Recurrent apnoea and respiratory problemsNoYes, required tracheostomyYesMildYes
Conductive hearing lossYes (left side)YesYes?Yes
Dislocation of hipsNoYesNoYesNo