Retinoblastoma is a rare pediatric malignancy (1/20,000) while Hirschsprung disease is a relatively common pediatric disorder (1/5,000). We describe a boy with bilateral retinoblastoma, Hirschsprung disease, multiple minor anomalies, and an interstitial deletion 13q (q13 → q22). This child and a similar previously reported girl with retinoblastoma and Hirschsprung disease may represent a previously unrecognized contiguous gene syndrome.
|Original language||English (US)|
|Number of pages||4|
|Journal||American Journal of Medical Genetics|
|State||Published - May 26 1998|
- Chromosome 13
- Hirschsprung disease