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.
大多数3号染色体缺失与神经发育和眼部异常有关。在此，我们报告一例罕见且不寻常的多发性先天性异常病例，包括肛门直肠畸形，并伴有3q29染色体片段缺失，此前未见相关报道。
一名3个月大的约旦女婴，出生时肛门缺失且有角膜混浊，出生1天时行转流性结肠造口术后转诊接受进一步治疗。
3q29染色体缺失除了与神经系统异常有关外，还与其他异常有关，如肛门直肠畸形。我们需要对患者进行全面检查以发现此类隐藏的临床特征。
