OBJECTIVE: We report the first case of DOORS syndrome from Indonesia.
METHODS: A review of the literature was conducted and cases compared.
RESULTS: A 27-day-old baby girl was brought to us with a history of recurrent seizures and absence of all finger- and toenails since birth. In addition, physical examination revealed left eye strabismus and a single transverse palmar crease on both hands. X-rays of the hands and feet showed absence of the distal phalanx of her right and left fingers II-V and the distal phalanx of her right and left toes I-V, respectively. Brainstem-evoked response audiometry test revealed profound bilateral sensorineural deafness. Pentalogy of Fallot was diagnosed by echocardiography, while an abnormal diffuse epileptiform pattern was found on electroencephalography.
CONCLUSIONS: This is the first report of an association between pentalogy of Fallot and single transverse palmar crease in DOORS syndrome.