|
Case
|
Sex
|
Age
|
AHO signs
|
Hormone resistances
|
GNAS locus methylation alteration
|
|---|
|
B1
|
M
|
6.9
|
BR, MR, RF
|
rPTH, rTSH (11)
|
AB/NESP/AS/XL
|
|
B2
|
M
|
11.43
|
MR (3.5), RF
|
rPTH
|
AB/NESP/AS/XL
|
|
B3
|
F
|
7.5
|
--
|
rPTH
|
AB/NESP/AS/XL
|
|
B4
|
F
|
65
|
BR, OB, RF
|
rPTH, rLH/FSH
|
AB/NESP/AS/XL
|
|
B5
|
F
|
5.2
|
MR, OB/OW, RF
|
rPTH, rTSH
|
AB/NESP/AS/XL
|
|
B6
|
F
|
9.95
|
RF
|
rPTH
|
AB/NESP/AS/XL
|
|
B7
|
M
|
15
|
BR
|
rPTH
|
AB/NESP/AS/XL
|
|
B8
|
F
|
13.26
|
--
|
rPTH
|
AB/NESP/AS/XL
|
|
B9
|
M
|
12.13
|
--
|
rPTH
|
AB/NESP/AS/XL
|
|
B10
|
F
|
6.55
|
MR, OB/OW
|
rPTH, rTSH
|
AB/NESP/AS/XL
|
|
B11
|
M
|
10.5
|
BR, OB/OW, RF
|
rPTH
|
AB/NESP/AS/XL
|
|
B12
|
M
|
37.5
|
BR, SS,OB/OW, RF
|
rPTH
|
AB/NESP/AS/XL
|
|
B13
|
F
|
9
|
RF
|
rPTH
|
AB/NESP/AS/XL
|
|
B14
|
F
|
0.5
|
OB/OW, RF
|
rPTH, rTSH
|
AB/NESP/AS/XL
|
|
B15
|
M
|
12.76
|
RF
|
rPTH
|
AB/NESP/AS/XL
|
|
B16
|
M
|
12.23
|
BR
|
rPTH
|
AB/NESP/AS/XL
|
|
B17
|
M
|
12
|
BR, OB, RF
|
rPTH, rTSH
|
AB/NESP/AS/XL
|
|
B18
|
M
|
16
|
BR*, OB/OW, RF
|
rPTH, rGHRH
|
AB/NESP/AS/XL
|
|
B19
|
F
|
4
|
BR*, OB/OW, RF
|
rPTH, rTSH
|
AB/NESP/AS/XL
|
|
B20
|
F
|
4.16
|
MR, OB/OW, RF
|
rPTH, rTSH
|
AB/NESP/AS/XL
|
|
B21
|
F
|
10.09
|
RF
|
rPTH, rTSH
|
AB/NESP/AS/XL
|
|
B22
|
F
|
7,41
|
BR
|
rPTH
|
AB/NESP/AS/XL
|
|
B23
|
F
|
5.5
|
BR, MR, RF
|
rPTH
|
AB/NESP/AS/XL
|
|
B24
|
F
|
23.5
|
BR, MR
|
rPTH
|
AB/NESP/AS/XL
|
|
B25
|
F
|
3.06
|
BR
|
rPTH, rTSH (6)
|
AB/NESP/AS/XL
|
|
B26
|
M
|
29
|
BR*, OB/OW
|
rPTH
|
Del at STX16 gene
|
|
B27
|
M
|
12.9
|
--
|
rPTH
|
Del at STX16 gene
|
|
B28
|
F
|
19.6
|
SS, OB/OW, RF
|
rPTH
|
Del at STX16 gene
|
- Sex: Female (F), Male (M); Age: age at diagnosis or at first evaluation, expressed in years; AHO signs: brachydactyly (BR, in case of X-Ray study: BR*), subcutaneous ossifications (SO), mental retardation (MR), short stature (SS), obesity and overweight (OB/OW), round face (RF); Hormone resistances: PTH resistance (rPTH), TSH resistance (rTSH), FSH/LH resistance (rFSH/LH), GHRH resistance (rGHRH), Insulin resistance (rIns). Features that occurred prior to the first diagnosis or later in life are remarked in bulk and the corresponding age is noticed in parenthesis. Features that were present at the diagnosis but disappeared later in life are reported in parenthesis. A12 + A13; A14 + A15; A19 + A20; A25 + A26; A45 + A46 are couple of brothers and/or sisters
