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This letter reports on an infant patient with several midline defects including cleft lip and palate, congenital heart defects, and digit abnormalities. Additionally, the patient was found to have Hirschsprung disease, a lack of ganglion cells in the colon. This combination of defects is similar to two siblings previously reported who also had Hirschsprung disease. While this could represent a new genetic syndrome, more cases need to be reported to better understand the condition and its potential molecular

Author

Ara

Language

EN