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Differential Diagnosis
(THIS PAGE IS UNDER CONSTRUCTION)
Differential Diagnoses essentially means using the process of elimination to determine a medical diagnosis for a patient.
Because LBWC has such a poor prognosis, it is beneficial to rule out other disorders which may carry some of the same characteristics.
There are two "official" differential diagnosis for LBWC.
"POC", which stands for Pentology of Cantrell, and OEIS Complex, which stands for (O)mphalocele, (E)xstrophy of the cloaca (cloacal exstrophy), anal (I)mperforation (imperforate anus or anal atresia) and (S)pinal defects.
Pentology of Cantrell is a syndrome consisting of five different fetal anomalies: a midline, upper abdominal wall abnormality; lower sternal defect; anterior diaphragmatic defect; diaphragmatic pericardial defect, and congenital abnormalities of the heart. Depending on the severity of each individual situation, this can be a survivable condition.
In most cases where there is a question of diagnosis between POC and LBWC, POC is the first diagnosis a parent receives. As the pregnancy progresses and more fetal anomalies are discovered, the diagnosis of POC is changed to LBWC.
Here is a support group for parents of children with POC:
http://health.groups.yahoo.com/group/PentalogyofCantrell/
OEIS Complex can consist of numerous, extensive defects, and can overlap with LBWC. Like POC, depending on the severity of the situation, this can be a survivable condition.
Here is a support group which may be useful for parents whose children are found to have OEIS complex, rather than LBWC. This is not an OEIS support group, as we could not find one- this is a support foundation for people dealing with the most severe defects related to OEIS:
http://www.bladderexstrophy.com/patient_support.htm
The following is a list of associated defects that can be involved with OEIS complex:
omphalocele
vesical exstrophy or cloacal exstrophy
https://rarediseases.info.nih.gov/diseases/6769/imperforate-anus" rel="noopener" target="_blank">imperforate anus (anal atresia)
spinal defects
spina bifida
failure of fusion of the genital tubercles and pubic rami
incomplete development of the lumbosacral vertebrae with spianl dysraphism
cryptochordism and epispadias in males
anomalies of the mullerian duct derivatives in females
wide range of urinary tract anomalies
single umbilical artery
11 pairs of ribs
duplicated colon
intestinal malrotation
anteriorly placed anus
rectovaginal fistula
genital malformations in females
- Ambiguous genitalia
- Hypoplastic labia
- Bifid uterus
genital malformations in males
- Small penis
- Ambiguous genitalia
- Epispadias
- abnormal scrotum or absent scrotum
- widely separated labioscrotal folds
- cryptochordism
hydronephrosis
renal agenesis
pelvic kidney
duplicated collecting system
hydroureter
vesicovaginal fistula
hemivertebrae
absent sacrum
sacral segmentation defects
symphysis pubis diastasis
congenital hip dislocation
club feet
tethered cord
lipomyelocystoceles
meningomyelocele
Chiari malformation (Arnold-Chiari syndrome)
hydrocephalus