Table 2

 A comparison of clinical features between the proband and maternal UPD 14 cases

FeaturesPatients with maternal UPD 143Proband
*But occipitofrontal circumference disproportionately large (75th centile).
Birth weight <5%10/13Yes
Weight at presentation <5%5/13No
Height at presentation <5%9/14Yes
Head circumference at presentation <5%4/12No
Frontal bossing/ broad forehead6/6Yes
Fleshy nasal tip5/6Yes
Short philtrum6/7Yes
High palate4/5Yes
Micrognathia3/4No
Small hands8/8Yes
Hyperextensible joints5/5Yes
Hypotonia10/10Yes
Scoliosis4/4Yes
Hydrocephalus3/6No*
Early puberty7/9Yes
Mental retardation/developmental delay11/14No