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limb-body wall complex

Wednesday 15 December 2004

Synopsis

-  body wall defects with herniation of internal organs.

  • thoracoschisis
  • gastroschisis

- short umbilical cord sequence (SUCS)

  • thoracoschisis
  • abdominoschisis

- amniotic band sequence (ABS)

  • total partial limb agenesis
  • craniofacial defects
    • exencephaly
    • anencephaly
    • labial cleft
    • deep facial cleft
    • absence of nose and maxilla
    • absence of parietal and frontal bones

Associations

- cerebral anomalies

  • exencephaly
  • anencephaly
  • labial cleft
  • focal brain wall dysplasia
  • holoprosencephaly
    • midline monoventricle

- ocular malformations (8372034)

  • uveal coloboma
  • anophtalmos (8372034)
  • microphthalmy
  • abnormal cornea
  • choroidal coloboma (8372034)
  • dysplastic retina
  • cataractous spherical lens

- fetal dysruptive lesions

  • digestive atresia
  • unilateral renal agenesis

See also

- amniotic membrane rupture sequence

References

- Jensen OA, Hagerstrand I, Brun A, Lofgren O. Limb-body wall complex with anophthalmos and choroidal coloboma. Pediatr Pathol. 1993 Jul-Aug;13(4):505-17. PMID: 8372034

- Moerman P, Fryns JP, Vandenberghe K, Lauweryns JM. Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: discrete disruption sequences with pathogenetic overlap. Am J Med Genet. 1992 Feb 15;42(4):470-9. PMID: 1609831

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