tailieunhanh - Báo cáo y học: " Chromosome 3q29 deletion with gastrointestinal malformation: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Chromosome 3q29 deletion with gastrointestinal malformation: a case report. | Masarweh Journal of Medical Case Reports 2011 5 285 http content 5 1 285 JOURNAL OF MEDICAL CASE REPORTS CASE REPORT Open Access Chromosome 3q29 deletion with gastrointestinal malformation a case report Ma in Masarweh Abstract Introduction 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. Case presentation 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. Conclusion 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. Introduction Chromosome 3q deletion syndrome 3q-syndrome and monosomy 3q are all synonyms of the same clinical description and it is considered an uncommon anomaly 1 . This condition is not associated with any antenatal abnormalities and the birth history is uneventful in most patients 2 . Deletion of the long arm of chromosome 3 may present with variable phenotypes consisting mainly of microcephaly unusual facial appearance eye abnormalities deformed ears and a delay in growth and development. A partial deletion of the long arm of chromosome 3 mainly the q23-q25 and q22-q23 bands is associate d with blepharophimosis-ptosis-epicanthus inversus syndrome BPES and most reported cases are linked to this deletion 3 . The major phenotypic features involve nearly all of the systems including the head and neck microcephaly dolichocephaly trigonocephaly retro-micrognathia large abnormally shaped posteriorly rotated and low-set ears prominent or beaked nose broad nasal bridge and cleft lip and palate the spine 13 .

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