Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

BMC Pediatrics

Table 1 Clinical and biochemical characteristics of the three sisters at first evaluation and during follow-up

	II:1	II:2	II:3	Normal values
Age at clinical diagnosis	4 years old	6 years old	2 years old	n.a
Growth abnormality^a	Short stature	No	Childhood onset short stature	n.a
Overweight/Obesity	Obesity	Obesity	Obesity	n.a
Rounded face	Yes	Yes	Yes	n.a
Brachydactyly	No	Yes	No	n.a
Subcutaneous ossifications	Yes	Yes	Yes	n.a.
Global developmental delay	mild	mild	Delayed speech	n.a
Hypothyroidism	Congenital	Acquired	Congenital	n.a
PTH (pg/ml)	714	783	511.2	15 – 65
Calcium (mg/dl)	7.4	8.9	8.8	8.2 – 10.4
Phosphorus (mg/dl)	4.5	7.1	6.0	2.5 – 4.6

^aGrowth pattern was assessed during follow-up, whereas the other data in the table are from each patient's first visit
(n.a.) not appropriate

ISSN: 1471-2431