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2012 ; 1
(4
): 235-8
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Cases of limb-body wall complex: Early amnion rupture, vascular disruption, or
abnormal splitting of the embryo?
#MMPMID27625829
Crespo F
; Pinar H
; Kostadinov S
J Pediatr Genet
2012[Dec]; 1
(4
): 235-8
PMID27625829
show ga
We report two cases of limb-body wall complex (LBWC), also known as body stalk
anomaly, a rare form of body wall defect incompatible with life. The first case
was identified during a level II ultrasound examination performed at 7 wk
gestational age. The delivery was by breech extraction at 39 wk and 4 days. The
second case was delivered by spontaneous vaginal delivery at 35 wk and 5 days.
Karyotype analysis was normal in both fetuses. The phenotype of LBWC is variable,
but commonly identified features include: exencephaly, limb defects, and either
facial clefts or thoraco-abdominoschisis. The exact etiology remains uncertain,
as the disorder has been regarded as sporadic with low recurrence. Vascular
disruption during early embryogenesis, early amnion rupture, abnormal splitting
of the embryo, and failure of amnion fusion have been implicated in the
pathogenesis of LBWC. A role for possible gene mutation and maternal use of
alcohol, tobacco, or illicit drugs has also been suggested. Detailed
ultrasonography along with biochemical screening may allow for early detection.