Table 1

Clinical manifestations of HGPS

Incidence: USA1 in 8 million live births
Male : female1.5 : 1
General featuresShort stature, weight low for height, absent sexual maturation
Cutaneous featuresLoss of subcutaneous fat, wrinkled skin, circumoral cyanosis
HeadCraniofacial disproportion, micrognathia, alopecia, prominent scalp veins, prominent eyes, “plucked bird” appearance
TeethAbnormal and delayed dentition
TrunkPyriform thorax, short dystrophic clavicles
Limbs“Horse riding” stance, wide based shuffling gait, coxa valga, thin limbs, stiff joints, dystrophic nails, etc
MentationNormal IQ
VoiceThin and high pitched