Medicine:Limb body wall complex

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Short description: Syndrome of severe multiple congenital anomalies in the fetus
Limb body wall complex
Other namesBody stalk anomaly
Cyllosomus and pleurosomus
Congenital absence of umbilical cord
SpecialtyNeonatology
Usual onsetEarly fetal development
PrognosisIncompatible with life
Frequency1 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]

  1. Exencephaly or encephalocele with facial clefts
  2. Abdominal wall defects: thoracoschisis and/or abdominoschisis
  3. 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

  1. ↑ 1.0 1.1 1.2 1.3 "Limb Body Wall Complex (LBWC)". International Society of Ultrasound in Obstetrics and Gynecology (ISUOG). https://www.isuog.org/clinical-resources/patient-information-series/patient-information-pregnancy-conditions/abdomen/limb-body-wall-complex-lbwc.html. 
  2. ↑ 2.0 2.1 2.2 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. PMID 24014975. 
  3. ↑ 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. 
  4. ↑ 4.0 4.1 4.2 4.3 Sahinoglu Z, Uludogan M, Arik H, Aydin A, Kucukbas M, Bilgic R (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. 
  5. ↑ 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. 
  6. ↑ 6.0 6.1 6.2 6.3 6.4 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. PMID 27257465. 
  7. ↑ 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. 



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