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 |