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Chromosome 3q29 deletion with gastrointestinal malformation: a case report.

Masarweh M - J Med Case Rep (2011)

Bottom Line: Most chromosome 3 deletions are associated with neuro-developmental and eye abnormalities.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: King Hussein Cancer Centre, Amman, Jordan. mmasarweh@khcc.jo.

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.

No MeSH data available.


Related in: MedlinePlus

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Mentions: A three-month-old Jordanian female baby was vaginally delivered at full-term to a 25-year-old mother on her second pregnancy, the first being successfully carried past 20 weeks (G2P1). The baby's parents were healthy and non-related. She presented with a history of ano-rectal malformation for further management. She underwent sigmoid loop colostomy after 24 hours of birth outside our hospital. General examination of the baby upon presentation showed a few external abnormal features such as a small head, low-set ears, corneal opacities in both eyes, and a high-arched palate in addition to signs of dehydration and being underweight. An abdominal examination revealed ulcerated inflamed skin in the left lower quadrant around a prolapsing loop colostomy, with fluid stool content. A perineal examination showed a single orifice, with urine coming through it. No anal or vaginal orifices were seen (Figure 1), and the labio-scrotal folds were under-developed. Her work-up showed that she was suffering from atrial septal defect (ASD), ventricular septal defect (VSD), a delay in mental development, corneal opacities, and cloacal ano-rectal malformation.


Chromosome 3q29 deletion with gastrointestinal malformation: a case report.

Masarweh M - J Med Case Rep (2011)

Absent anus.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3141721&req=5

Figure 1: Absent anus.
Mentions: A three-month-old Jordanian female baby was vaginally delivered at full-term to a 25-year-old mother on her second pregnancy, the first being successfully carried past 20 weeks (G2P1). The baby's parents were healthy and non-related. She presented with a history of ano-rectal malformation for further management. She underwent sigmoid loop colostomy after 24 hours of birth outside our hospital. General examination of the baby upon presentation showed a few external abnormal features such as a small head, low-set ears, corneal opacities in both eyes, and a high-arched palate in addition to signs of dehydration and being underweight. An abdominal examination revealed ulcerated inflamed skin in the left lower quadrant around a prolapsing loop colostomy, with fluid stool content. A perineal examination showed a single orifice, with urine coming through it. No anal or vaginal orifices were seen (Figure 1), and the labio-scrotal folds were under-developed. Her work-up showed that she was suffering from atrial septal defect (ASD), ventricular septal defect (VSD), a delay in mental development, corneal opacities, and cloacal ano-rectal malformation.

Bottom Line: Most chromosome 3 deletions are associated with neuro-developmental and eye abnormalities.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: King Hussein Cancer Centre, Amman, Jordan. mmasarweh@khcc.jo.

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.

No MeSH data available.


Related in: MedlinePlus