title: Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome.
abstract: 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.
authors: Department of Pathology, Royal Hospitals Trust, Belfast, United Kingdom.
authors: C M
authors: CM
authors: Thornton
authors: A C
authors: AC
authors: Magee
authors: P S
authors: PS
authors: Thomas
authors: R
authors: R
authors: Feakins
authors: N C
authors: NC
authors: Nevin
authors: M D
authors: MD
authors: O'Hara
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D003638:Deafness / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007668:Kidney / Q000002:abnormalities*; D009264:Nails, Malformed; D013577:Syndrome