Masarweh Ma'in
King Hussein Cancer Centre, Amman, Jordan.
J Med Case Rep. 2011 Jul 5;5:285. doi: 10.1186/1752-1947-5-285.
Most chromosome 3 deletions are associated with neuro-developmental and eye abnormalities. Here, we report a rare and unusual multiple congenital abnormality, including ano-rectal malformation, in conjunction with chromosome 3q29 segment deletion, which has not previously been reported.
A three-month-old female Jordanian baby presented with an absent anus and corneal opacities and was referred for further management after a diverting colostomy operation at the age of one day.
Chromosome 3q29 deletion is associated with additional abnormalities to neurological ones, such as ano-rectal malformations. We need to investigate a patient fully to find such hidden clinical features.
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