Limb body wall complex
| Limb body wall complex | |
|---|---|
| Other names | Body stalk anomaly Cyllosomus and pleurosomus Congenital absence of umbilical cord |
| Specialty | Neonatology |
| Usual onset | Early fetal development |
| Prognosis | Incompatible with life |
| Frequency | 1 in 15,000 pregnancies[1] |
Limb body wall complex (LBWC) is a rare and severe syndrome of congenital malformations involving craniofacial and abdominal anomalies. LBWC emerges during early fetal development and is fatal. The cause of LBWC is unknown.
Diagnosis and classification
Traditionally, LBWC is diagnosed by the presence of at least two of the three Van Allen criteria:[2]
- Exencephaly or encephalocele with facial clefts
- Abdominal wall defects: thoracoschisis and/or abdominoschisis
- Limb defects
Several systems have been proposed to classify LBWC cases phenotypically. Russo et al. (1993) proposed two types distinguished by the presence or absence of craniofacial defects.[3] Sahinoglu et al. (2007) proposed three types based on the anatomical location of defects:[4]
- Type 1: Craniofacial defect and intact thoracoabdominal wall; rarely, placenta or umbilical cord attachment to cranial structures
- Type 2: Supraumbilical thoracoabdominal wall defect with abdominal organ eventration into the amniotic sac; defective umbilical cord
- Type 3: Infraumbilical abdominal wall defect with broad placenta attachment and abdominal organ eventration into the gestational sac; malformed or absent cloacal structures
In all types of LBWC, some of the fetus's organs develop outside of its body,[5] and the placenta will adhere to the affected body structure (cranium, thorax, or abdomen).[6] The umbilical cord is significantly shortened. As a consequence, the developing spine and limbs are contorted, leading to scoliosis and limb defects.[1]
LBWC can be diagnosed by prenatal ultrasound as early as gestational week 11.[7] Elevated alpha-fetoprotein levels in maternal serum may suggest the possibility of LBWC or another anomaly, motivating ultrasound follow-up.[6] Due to LBWC's extremely poor prognosis, termination of the pregnancy is typically recommended.[1][4][6]
Prevalence
LBWC is estimated to occur in 1 in 15,000 pregnancies, with the majority of cases ending in intrauterine death.[1][2] Its incidence at birth is estimated to be 0.32 in 100,000.[2] Infants with LBWC which survive to term die during or shortly after birth.[6]
Causes
The etiology of LBWC is unknown.[6] Several hypotheses have been proposed: defective blastodisc development, vascular disruption during early embryonic development, and early amniotic membrane rupture resulting in mechanical damage to the fetus.[4] Case reports have reported associations between LBWC and placental trisomy 16, maternal uniparental disomy 16, mosaic trisomy 13, cocaine usage, and continued use of oral contraceptives during early gestation.[4]
References
- ^ a b c d "Limb Body Wall Complex (LBWC)". International Society of Ultrasound in Obstetrics and Gynecology (ISUOG). Retrieved 2024-01-08.
- ^ a b c Chikkannaiah P, Dhumale H, Kangle R, Shekar R (January 2013). "Limb body wall complex: a rare anomaly". Journal of Laboratory Physicians. 5 (1): 65–7. doi:10.4103/0974-2727.115930. PMC 3758712. PMID 24014975.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Russo R, D'Armiento M, Angrisani P, Vecchione R (1993). "Limb body wall complex: a critical review and a nosological proposal". Am J Med Genet. 47 (6): 893–900. doi:10.1002/ajmg.1320470617. PMID 8279488.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ a b c d Sahinoglu Z, Uludogan M, Arik H, Aydin A, Kucukbas M, Bilgic R; et al. (2007). "Prenatal ultrasonographical features of limb body wall complex: a review of etiopathogenesis and a new classification". Fetal Pediatr Pathol. 26 (3): 135–51. doi:10.1080/15513810701563728. PMID 17886024.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Van Allen MI, Curry C, Gallagher L (1987). "Limb body wall complex: I. Pathogenesis". Am J Med Genet. 28 (3): 529–48. doi:10.1002/ajmg.1320280302. PMID 2962493.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ a b c d e Bhat A, Ilyas M, Dev G (2016). "Prenatal sonographic diagnosis of limb-body wall complex: case series of a rare congenital anomaly". Radiol Case Rep. 11 (2): 116–20. doi:10.1016/j.radcr.2016.02.004. PMC 4878923. PMID 27257465.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Panaitescu AM, Ushakov F, Kalaskar A, Pandya PP (2016). "Ultrasound Features and Management of Body Stalk Anomaly". Fetal Diagn Ther. 40 (4): 285–290. doi:10.1159/000444299. PMID 26928926.
{{cite journal}}: CS1 maint: multiple names: authors list (link)
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