{{Short description|Syndrome of severe multiple congenital anomalies in the fetus}} {{Infobox medical condition | name = | synonym = Body stalk anomaly<br>Cyllosomus and pleurosomus<br>Congenital absence of umbilical cord | image = | width = | alt = | caption = | pronounce = | field = Neonatology | symptoms = | onset = Early fetal development | duration = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | prognosis = Incompatible with life | medication = | frequency = 1 in 15,000 pregnancies<ref name="isuog"/> | deaths = }}
'''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:<ref name ="Chikkannaiah2013"/> # 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.<ref>{{cite journal |last1=Nagase |first1=H |last2=Ohyama |first2=M |last3=Yamamoto |first3=M |last4=Akamatsu |first4=C |last5=Miyake |first5=Y |last6=Nagashima |first6=A |last7=Sasaki |first7=M |last8=Ishikawa |first8=H |title=Prenatal ultrasonographic findings and fetal/neonatal outcomes of body stalk anomaly. |journal=Congenital anomalies |date=July 2021 |volume=61 |issue=4 |pages=118-126 |doi=10.1111/cga.12412 |pmid=33583092}}</ref>
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.<ref name="pmid8279488"/> Sahinoglu et al. (2007) proposed three types based on the anatomical location of defects:<ref name="pmid17886024"/> * '''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,<ref name="pmid2962493"/> and the placenta will adhere to the affected body structure (cranium, thorax, or abdomen).<ref name="pmid27257465"/> The umbilical cord is significantly shortened. As a consequence, the developing spine and limbs are contorted, leading to scoliosis and limb defects.<ref name="isuog"/>
LBWC can be diagnosed by prenatal ultrasound as early as gestational week 11.<ref name="pmid26928926"/> Elevated alpha-fetoprotein levels in maternal serum may suggest the possibility of LBWC or another anomaly, motivating ultrasound follow-up.<ref name="pmid27257465"/> Due to LBWC's extremely poor prognosis, termination of the pregnancy is typically recommended.<ref name="isuog"/><ref name="pmid17886024"/><ref name="pmid27257465"/>
== Prevalence == LBWC is estimated to occur in 1 in 15,000 pregnancies, with the majority of cases ending in intrauterine death.<ref name="isuog"/><ref name="Chikkannaiah2013"/> Its incidence at birth is estimated to be 0.32 in 100,000.<ref name ="Chikkannaiah2013"/> Infants with LBWC which survive to term die during or shortly after birth.<ref name="pmid27257465"/>
== Causes == The etiology of LBWC is unknown.<ref name="pmid27257465"/> 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.<ref name="pmid17886024"/> 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.<ref name="pmid17886024"/>
== References == <references>
<ref name="isuog">{{cite web |title=Limb Body Wall Complex (LBWC) |publisher=International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) |url=https://www.isuog.org/clinical-resources/patient-information-series/patient-information-pregnancy-conditions/abdomen/limb-body-wall-complex-lbwc.html |access-date=2024-01-08}}</ref>
<ref name="Chikkannaiah2013">{{cite journal | author= Chikkannaiah P, Dhumale H, Kangle R, Shekar R | title = Limb body wall complex: a rare anomaly | journal = Journal of Laboratory Physicians | volume = 5 | issue = 1 | pages = 65–7 | date = January 2013 | pmid = 24014975 | pmc = 3758712 | doi = 10.4103/0974-2727.115930 | doi-access = free }}</ref>
<ref name="pmid2962493">{{cite journal| author=Van Allen MI, Curry C, Gallagher L| title=Limb body wall complex: I. Pathogenesis. | journal=Am J Med Genet | year= 1987 | volume= 28 | issue= 3 | pages= 529-48 | pmid=2962493 | doi=10.1002/ajmg.1320280302}}</ref>
<ref name="pmid8279488">{{cite journal| author=Russo R, D'Armiento M, Angrisani P, Vecchione R| title=Limb body wall complex: a critical review and a nosological proposal. | journal=Am J Med Genet | year= 1993 | volume= 47 | issue= 6 | pages= 893-900 | pmid=8279488 | doi=10.1002/ajmg.1320470617}}</ref>
<ref name="pmid27257465">{{cite journal| author=Bhat A, Ilyas M, Dev G| title=Prenatal sonographic diagnosis of limb-body wall complex: case series of a rare congenital anomaly. | journal=Radiol Case Rep | year= 2016 | volume= 11 | issue= 2 | pages= 116-20 | pmid=27257465 | doi=10.1016/j.radcr.2016.02.004 | pmc=4878923}}</ref>
<ref name="pmid26928926">{{cite journal| author=Panaitescu AM, Ushakov F, Kalaskar A, Pandya PP| title=Ultrasound Features and Management of Body Stalk Anomaly. | journal=Fetal Diagn Ther | year= 2016 | volume= 40 | issue= 4 | pages= 285-290 | pmid=26928926 | doi=10.1159/000444299}}</ref>
<ref name="pmid17886024">{{cite journal| author=Sahinoglu Z, Uludogan M, Arik H, Aydin A, Kucukbas M, Bilgic R | display-authors=etal| title=Prenatal ultrasonographical features of limb body wall complex: a review of etiopathogenesis and a new classification. | journal=Fetal Pediatr Pathol | year= 2007 | volume= 26 | issue= 3 | pages= 135-51 | pmid=17886024 | doi=10.1080/15513810701563728}}</ref>
</references>
Category:Congenital disorders of musculoskeletal system Category:Rare diseases Category:Embryology {{Musculoskeletal-stub}}