The acronym DOOR was first used by Cantwell in 1975 to describe a syndrome 
comprising sensorineural deafness, osteodystrophy, onychodystrophy, and mental 
retardation. To date, 16 cases of the syndrome have been documented in the 
literature. We present two sisters who died in early infancy with the clinical 
features of DOOR syndrome, both of whom in addition had cardiac defects and 
urinary tract abnormalities. Both infants had the classical clinical features of 
sensorineural deafness, seizures, hypoplastic nails, finger-like thumbs, and the 
characteristic facies of the syndrome. Autopsy in each case revealed the 
additional findings of a membranous ventricular septal defect and a septum 
secundum atrial septal defect. The first child had left-sided hydronephrosis and 
hydroureter, and the second sibling had bilateral hydronephrosis, hydroureter, 
and dilatation of the bladder. Congenital heart disease and renal abnormalities 
have not to our knowledge been previously described in association with the DOOR 
syndrome.