Association of Joubert syndrome and Hirschsprung disease.
نویسندگان
چکیده
BACKGROUND Association between Joubert Syndrome and Hirschsprung disease is rare. CASE CHARACTERISTICS A 9-month-old girl having developmental delay and chronic constipation. OBSERVATION Molar tooth sign on MRI brain and absence of ganglion cells in rectal biopsy specimen. OUTCOME Child underwent surgical repair for Hirschsprung disease. MESSAGE Association of these two rare entities could be explained by ciliopathy.
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 52 1 شماره
صفحات -
تاریخ انتشار 2015