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Table 1 Clinical characteristics of patients with lateralized overgrowth syndrome in the present study

From: Clinical and genetic analyses of patients with lateralized overgrowth

Patient

(Sex/age)

Clinical features

Genetic diagnosis (mutated gene)

Lateralized overgrowth

Cutaneous capillary malformation

Venous engorgement

Others

1 (M/7y)

Right leg

Right leg

 + 

–

PROS (PIK3CA)

2 (M/8y)

Left arm and leg

Trunk, both arms, left leg

–

Seizure, ipsilateral long 2nd toe

PROS (PIK3CA)

3 (F/39y)

Left arm and leg

Face, trunk, Left arm

 + 

–

PROS (PIK3CA)

4 (M/10 m)

Both legs

Left neck and shoulder

–

Hemimegalencephaly, Macrodactly of feet

PROS (PIK3CA)

5 (F/53y)

Both upper arms and legs

Both legs

 + 

Pulmonary thromboembolism

PROS (PIK3CA)

6 (F/4 m)

Left arm and leg

Trunk, left face, neck

–

–

PROS (PIK3CA)

7 (M/4 m)

Right arm and leg

Trunk, both arms and legs

 + 

–

PROS (PIK3CA)

8 (M/7y)

Right legs

None

 + 

–

Mosaic RASopathies (KRAS)

9 (M/2y)

Right legs

None

 + 

Lumbosacral AVM, Lymphatic malformation

Mosaic RASopathies

(KRAS)

10 (F/2y)

Left arm and both legs

None

 + 

Epidermal nevi, Chest wall AVM, Lymphatic malformation

PTEN hamartoma tumor syndrome (PTEN)

11 (M/3y)

Left leg

None

 + 

Left tibial hypertrophy, lymphatic malformation

Mosaic RASopathies (MAP2K3)

12 (M/17y)

Right arm and leg

Face, neck, right side of trunk, right arm, both legs

 + 

Ipsilateral eye blindness, mental retardation

Sturge–Weber syndrome (GNAQ)

13 (M/47y)

Right leg

Right leg

–

lymphatic malformation

(TBC1D4)

14 (M/5y)

Left leg

Left leg

–

–

TEK-related vascular malformation (TEK)

15 (M/43y)

Right leg

Face, neck, trunk, left arm, both legs

–

Right hemifacial bone prominency

Not determined

  1. PROS, PIK3CA-related overgrowth spectrum; KTS, Klippel-Trenaunay syndrome; AVM, arteriovenous malformation; M, male; F, female