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
[edit]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
As a component of the abdominal wall defect, the umbilical cord is shortened or absent with the fetus being directly attached to the placenta, a key feature in its prenatal diagnosis by ultrasound.[3]
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.[4] Sahinoglu et al. (2007) proposed three types based on the anatomical location of defects:[5]
- 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,[6] and the placenta will adhere to the affected body structure (cranium, thorax, or abdomen).[7] 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.[8] Elevated alpha-fetoprotein levels in maternal serum may suggest the possibility of LBWC or another anomaly, motivating ultrasound follow-up.[7] Due to LBWC's extremely poor prognosis, termination of the pregnancy is typically recommended.[1][5][7]
Prevalence
[edit]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.[7]
Causes
[edit]The etiology of LBWC is unknown.[7] 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.[5] 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.[5]
References
[edit]- ^ 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) - ^ Nagase, H; Ohyama, M; Yamamoto, M; Akamatsu, C; Miyake, Y; Nagashima, A; Sasaki, M; Ishikawa, H (July 2021). "Prenatal ultrasonographic findings and fetal/neonatal outcomes of body stalk anomaly". Congenital anomalies. 61 (4): 118–126. doi:10.1111/cga.12412. PMID 33583092.
- ^ 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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