Gastroschisis associated with cleft lip and palate
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Published on: September 19, 2015
Basem A Khalil1, Helen Murphy, Matthew O Jones
1Department of Paediatric Surgery, Royal Manchester Children's Hospital, Pendlebury, Manchester, UK M27 4HA, UK. kba_bas@hotmail.co.uk
Insights
Gastroschisis, a congenital abdominal defect, can rarely occur with other midline anomalies. This study reports the first three cases of gastroschisis and cleft palate in the same infant, highlighting a rare association.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Surgery
Background:
- Gastroschisis is a frequent congenital defect involving the abdominal wall.
- Extra-abdominal midline congenital anomalies are rarely associated with gastroschisis.
- Oral clefts are common craniofacial midline defects, sometimes linked to other midline anomalies like omphalocele.
Observation:
- This report details three unique cases.
- Each patient presented with both gastroschisis and cleft palate.
- This represents a rare co-occurrence of these specific congenital anomalies.
Findings:
- The study documents the first reported instances of gastroschisis and cleft palate in the same patient.
- This association suggests a potential shared developmental pathway or etiological factor.
- The findings expand the known spectrum of midline defects associated with gastroschisis.
Implications:
- These cases may prompt further investigation into the genetic and environmental factors underlying midline defects.
- Understanding this association can improve diagnostic approaches and genetic counseling for affected families.
- Further research is warranted to elucidate the embryological mechanisms linking gastroschisis and cleft palate.
Abstract:
Gastroschisis is a common congenital abdominal wall defect. Rarely, it is associated with extraabdominal midline congenital anomalies. Oral clefts are the commonest craniofacial congenital midline defects. They can be associated with other midline defects like omphalocele. We believe these are the first 3 case reports of gastroschisis and cleft palate occurring in the same patient.
