We found a FLNA mutation in 4 individuals, all of them with at least one clinical or radiological feature supportive of a FLNA mutation: MDC1002, typical PNH and vermis hypoplasia; MDC1005, typical PNH and cardiac (ventricular septal defect); MDC 1019, typical PNH and family history of recurrent spontaneous abortions; MDC 1020, male foetus stillbirth. The gene discussed is FLNA; the disease is ventricular septal defect.