PHENOTYPES OF LIMB-BODY-WALL COMPLEX 

 

 

Type 1

Type 2

Craniofacial defects:
  - encephalocele and / or exencephaly
    always associated with a facial cleft.
  - with / without cranioplacental adhesions.
  - with / without amniotic bands.
  - with / without broad amniotic adhesions.
  - with / without band related limb defects.

No craniofacial defects.
Urogenital abnormalities.
Anal atresia.
Abdominal placental attachment.
Persistent cloaca.
  - absent bladder.
  - abnormal internal and
  external genitalia.
± Scoliosis.
± Lumbo-sacral meningocele.
  - Lower limb abnormalities.
  - clubfoot.
  - abnormal rotation.
  - flexion contractures.
  - hypoplasia.

Umbilical cord is occasionally short

Umbilical cord is short and not free.

Lack of persistence of extraembryonic celom.

Persistence of extraembryonic celom

Pathology: cranial attachment due to adhesions between amnion and skull defect.
Possibly due to early vascular disruption and associated amnion rupture.
Amnion ruptured.

Pathology: abdominal attachment is probably due to an embryonic disturbance during the process of infolding.
Amnion intact.

 

 

 

REFERENCES
  1. Russo R, D'Armiento M, Angrisani P et.al. Limb Body Wall Complex: A critical review and a nosological proposal. Am J Med Genet 1993;47:893-900.