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Table 1 Clinical features of children with lymphatic malformations

From: A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation

Patient ID

Age at surgery

Sex

Family history

Pathology

MRI report

Diagnose

740472

9 mo

Male

Normal

Lymphatic malformation with intrathecal haemorrhage

A 7.8*3.0*7.4 cm mass is seen in the right neck and occiput, long T1 and T2 signals

Macrocystic lymphatic malformation

739889

2 mo

Male

Normal

Lymphatic malformation with intrathecal haemorrhage

A 3.7*6.5*6.3 cm mass is seen in the left neck, long T1 and T2 signals, involving left parapharyngeal and retropharyngeal spaces and causing airway obstruction

Macrocystic lymphatic malformation

740368

25 mo

Male

Normal

Lymphatic malformation

Giant and long T1 and T2 signals in the left neck, involving bilateral parapharyngeal spaces, retropharyngeal space, prevertebral space and causing airway obstruction

Microcystic lymphatic malformation

768423

91 mo

Male

Normal

Lymphatic malformation with intrathecal haemorrhage

A 6*2*4 cm mass is seen in the right neck, short T1 and T2 signals

Microcystic lymphatic malformation

754665

32 mo

Female

Normal

Lymphatic malformation with intrathecal haemorrhage

A 4.8*1.8*4.0 cm mass is seen in the right neck, slightly short T1 and T2 signals

Mixed-cystic lymphatic malformation

764800

18 mo

Male

Normal

Lymphatic malformation

A 7.5*1.5*4.4 cm mass is seen in the left neck, long T1 and T2 signals, involving retropharyngeal space and causing airway obstruction

Mixed-cystic lymphatic malformation