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Umbilical cord agenesis in limb body wall defect
C M Craven1, J C Carey, K Ward
1Department of Obstetrics and Gynecology, School of Medicine, University of Utah, Salt Lake City 84112, USA.
American Journal of Medical Genetics
|July 11, 1997
Summary
Limb Body Wall Defect (LBWD) is a group of congenital defects. This study identified a specific subset with shared malformations, suggesting a primary defect in early embryonic body wall closure.
Area of Science:
- Developmental Biology
- Medical Genetics
- Teratology
Background:
- Limb Body Wall Defect (LBWD) encompasses a spectrum of congenital anomalies characterized by abdominal or thoracic wall defects and limb deficiencies.
- Existing hypotheses for LBWD pathogenesis include amnion rupture, vascular disruption, and embryonic malformation.
- The heterogeneity of LBWD suggests potential distinct pathogenic subsets.
Purpose of the Study:
- To investigate a specific subset of Limb Body Wall Defect (LBWD) with shared structural abnormalities and a common etiology.
- To propose a unifying pathogenic mechanism for this LBWD subset based on observed malformations.
Main Methods:
- Retrospective case selection of five infants/fetuses meeting restrictive criteria for LBWD.
- Criteria included abdominoschisis with specific amnion attachment, limb defects, and umbilical cord agenesis.
- Comprehensive autopsy examination to identify common structural defects.
Main Results:
- All cases exhibited gastrointestinal evisceration into the extra-embryonic coelom, intestinal abnormalities, scoliosis, thoracic deformities, and pulmonary hypoplasia.
- Consistent abnormalities of the cloaca and urogenital ridge were noted, with frequent meningomyelocele and cloacal exstrophy.
- Female subjects displayed ovarian agenesis and Mullerian fusion defects; external genitalia were abnormal in all.
Conclusions:
- This study identifies a distinct subset of LBWD characterized by severe, shared malformations.
- The findings support a primary malformation of embryonic body wall closure and abnormal amnion fusion in the first month of development as the unifying pathogenesis.