Limb-body wall complex: a compound anomaly pattern in body-wall defects.
Our presentation of four cases demonstrates the essential features of limb-body wall complex (LBWC), representing a compound anomaly pattern in body-wall defects. The diagnosis of this entity is based on two of the three following characteristics: (1) exencephaly/encephalocele and facial clefts; (2) thoraco- and/or abdominoschisis; and (3) limb defects. A definite association with internal anomalies and severe kyphoscoliosis makes a more distinct concept of the pathogenesis reasonable. Limb-body wall malformations result from a malfunction of the ectodermal placodes involving the early embryonic folding process. The poor prognosis of LBWC calls for early antenatal diagnosis.
Pumberger
W
W
Division of Paediatric Surgery, University of Vienna, Vienna/Wien, Austria.
Schaller
A
A
Bernaschek
G
G
D000009:Abdominal Muscles / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology; D000015:Abnormalities, Multiple / Q000196:embryology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000196:embryology; D011247:Pregnancy; D016216:Ultrasonography, Prenatal