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Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome
C M Thornton1, A C Magee, P S Thomas
1Department of Pathology, Royal Hospitals Trust, Belfast, United Kingdom.
Insights
Two infants with DOOR syndrome presented with previously undescribed cardiac and urinary tract defects. This expands the known clinical spectrum of this rare genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Medical Syndromes
Background:
- DOOR syndrome, characterized by deafness, osteodystrophy, onychodystrophy, and mental retardation, was first described in 1975.
- Only 16 cases have been documented, highlighting its rarity.
- The syndrome's typical presentation includes sensorineural deafness, seizures, hypoplastic nails, distinctive facies, and intellectual disability.
Observation:
- Two infant sisters presented with classical DOOR syndrome features, including sensorineural deafness, seizures, hypoplastic nails, and characteristic facial features.
- Both infants exhibited previously undocumented congenital heart defects: ventricular septal defects and atrial septal defects.
- Additionally, both siblings presented with significant urinary tract abnormalities, including hydronephrosis, hydroureter, and bladder dilatation.
Findings:
- Autopsy confirmed the presence of membranous ventricular septal defects and septum secundum atrial septal defects in both infants.
- The first child had left-sided hydronephrosis and hydroureter, while the second had bilateral hydronephrosis, hydroureter, and bladder dilatation.
- These cardiac and renal anomalies represent novel findings not previously associated with DOOR syndrome in existing literature.
Implications:
- The findings suggest that cardiac and renal abnormalities may be part of the broader clinical spectrum of DOOR syndrome.
- This expands the diagnostic criteria and understanding of this rare genetic disorder.
- Further research is warranted to investigate the genetic basis and prevalence of these associated anomalies in 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.