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Table 1 Clinical features of 11 patients with pseudohypoparathyroidism

From: Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children

Patient Sub type Gender Age of onset At diagnosis Initial presentation AHO phenotypes Family history
Age Height(cm) Weight(kg) BMI
P1 PHP1a Female 1.5 y 2.5 y 91 (0.5SD) 20 (4.9SD) 24.2 heterotopic ossification HO, RF, OB, SB Positive
P2 PHP1a Female 3 y 11.8 y 137.8 (-2.2SD) 36.8 (-0.6SD) 19.4 growth retardation SS, BR, RF Negative
P3 PHP1a Male 11 y 11.5 y 133 (-2.2SD) 36.5 (-0.5SD) 20.6 recurrent seizures SS, BR, MR, HO, RF, SB Positive
P4 PHP1a Male 0.5 y 0.75 y 69 (-1.4SD) 8.3 (-1SD) 17.4 recurrent seizures MR, RF, SB Negative
P5 PHP1a Female 8 y 9 y 120.5 (-2.4SD) 23.6 (-1.1SD) 15.3 growth retardation SS, BR, RF Negative
P6 PHP1a Female 3 y 7.8 y 116.8 (-2.7) 30.9 (1.9SD) 22.6 growth retardation SS, BR, MR, RF, OB, SB Negative
P7 PHP1b Male 13.6 y 14 y 157 (-1.2SD) 44.2 (-0.9SD) 17.9 recurrent seizures NO Negative
P8 PHP1b Female 2.3 y 3.5 y 102 (0.7SD) 17 (1.5SD) 16.3 recurrent seizures NO Negative
P9 PPHP Male 3 y 10.3 y 129.5 (-2.1SD) 24.2 (1.8SD) 14.4 growth retardation SS, BR, HO, OB, SB Negative
P10 POH Male newborn 0.8 y 67 (-2.7SD) 6.8 (-2.8SD) / heterotopic ossification HO, Negative
P11 POH Male newborn 0.5 y 65 (-1.4SD) 6.7 (-1.8SD) / heterotopic ossification HO Negative
  1. SS Short stature, BR Brachydactyly, MR Mental retardation, HO Heterotopic ossification, RF Round face, SB Stocky build, OB Obesity