Items

Case 1

Case 2

Case 3

Sex

F

F

F

Age at diagnosis

19 months

6 Weeks

4 weeks

Height (SDS)

<−3

−1

0

Heat murmur

Intensity

Mitral

3/6

Mitral

3/6

Sub clavicular

3/6

Neurological findings

Severe psychomotor delay

Axial hypotonia

Normal

Other abnormalities

Macroglossia Umbilic hernia

Myxoedema

Macroglossia Umbilic hernia

Macroglossia

TSHus (µUI/ml)

238.7

199.87

>50

Gland in situ

RL* 14 mm

LL** 11 mm

Yes

RL 7 mm

LL 9 mm

Heart ultrasound

Pulmonary stenosis

RV/PA*** gradient 75 mmHg

Pulmonary stenosis

RV/PA gradient 45 mmHg

Patent ductus arteriosus

Pulmonary stenosis