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Table 2 Associated clinical findings (ACF) observed in 34 patients from our cohort

From: 47 patients with FLNA associated periventricular nodular heterotopia

  n observed per group vs. total percentage
Cardiovascular I II III IV Total (%)
Aortic valve insufficiency 1 4   3 8 (23.5)
Aortic dilation 1     1 (2.9)
Mitral valve insufficiency     1 1 (2.9)
Persistent ductus arteriosus 2 1 2 1 6 (17.6)
Cerebral aneurysm 1   1   2 (5.9)
Internal findings
Gastrointestinal dysfunction 1    1 2 (5.9)
Liability to hematoma 1   1   2 (5.9)
Obstructive lung disease   2    2 (5.9)
Dysmorphism/physical handicaps
Joint hypermobility 2 1   2 5 (14.7)
Musclular hypotonia 1     1 (2.9)
Talipes     1 1 (2.9)
Skin hyperextensible 1 1    2 (5.9)
Craniofacial dysmorphism 1 1   1 3 (8.8)
  1. Associated clinical findings (ACFs) were documented in 19 of the patients (55.9 %)
  2. However, in absolute numbers there were 12 ACFs in 4 patients in group I (average 3 per patient), 10 in 13 patients in group II (0.77/patient), 4 in 7 patients in group III (0.43/patient) and 10 in 10 patients in group IV (1,0/patient). The load of multiple different ACFs seems to be higher in younger patients. Patent ductus arteriosus Botalli (PDA) in 5 patients and cardiac valve disease in 8 patients were the most frequently observed ACFs, they showed no correlation to the patients’s age or neurological phenotype