• 62027827 National Natural Science Foundation of China
• 2023GJZ03 Basic Research Funds of Central Public Welfare Research Institutes of China
• NHCKLBDP202406 Open Research Fund of National Health Commission Key Laboratory of Birth Defects Prevention

• BSA classification
• LBWC
• SPBWC
• SPLBWC
• SSBWC
• STBWC
• animal model
• pig

• bladder or cloacal exstrophy
• ectopia cordis
• exomphalos
• myofibroblasts
• thoracoabdominoschisis
• ventral body wall development

• Animals
• Mice
• Humans
• Embryonic Development/physiology
• Morphogenesis/physiology
• Disease Models, Animal
• Embryo, Mammalian

• 095824/Z/11/Z Wellcome Trust
• 105082 University of Manchester
• PG/14/1/30549 British Heart Foundation
• Wellcome Trust
• BB/G021074/1/BB Biotechnology and Biological Sciences Research Council
• BB/W01730X/1 Biotechnology and Biological Sciences Research Council
• Biotechnology and Biological Sciences Research Council
• British Heart Foundation
• University of Manchester
• Wellcome Trust

Limb body wall complex (LBWC) is a fatal malformation characterized by major defects in the fetal abdominal or thoracic wall, visceral herniation, significant scoliosis or spina bifida, limb deformities, craniofacial deformities, and umbilical cord abnormalities (short or absent umbilical cord). Early diagnosis of this condition is of great clinical significance for clinical intervention and pregnancy decision-making. With the rapid development of fetal ultrasound medicine, early pregnancy (11-13⁺⁶ wk) standardized prenatal ultrasound examinations have been widely promoted and applied.

To explore the value of prenatal ultrasound in the diagnosis of fetal LBWC syndrome during early pregnancy.

The ultrasonographic data and follow-up results of 18 cases of fetal LBWC diagnosed by prenatal ultrasound during early pregnancy (11-13⁺⁶ wk) were retrospectively analyzed, and their ultrasonographic characteristics were analyzed.

Among the 18 fetuses with limb wall abnormalities, there were spinal dysplasia (18/18, 100%), varying degrees of thoracoschisis and gastroschisis (18/18, 100%), limb dysplasia in 6 cases (6/18, 33%), craniocerebral malformations in 4 cases (4/18, 22%), thickening of the transparent layer of the neck in 5 cases (5/18, 28%), and umbilical cord abnormalities in 18 cases (18/18, 100%), single umbilical artery in 5 cases.

Prenatal ultrasound in early pregnancy can detect LBWC as early as possible, and correct prenatal evaluation provides important guidance value for pregnancy decision-making and early intervention.

• Early pregnancy
• Ultrasonography
• Limb body wall complex
• Fetus

• Body stalk anomaly
• Craniorachischisis
• Limb body wall complex
• Neural tube defects
• Spina bifida
• Ultrasound

• Pregnancy
• Female
• Male
• Humans
• Infant
• Anencephaly/diagnostic imaging
• Anencephaly/epidemiology
• Anencephaly/genetics
• Trisomy 18 Syndrome
• Retrospective Studies
• Neural Tube Defects/diagnostic imaging
• Neural Tube Defects/epidemiology
• Prenatal Diagnosis

• Abdominal Wall Development
• Congenital Abdominal Wall Defect
• Gastroschisis
• Omphalocele

Ectopia cordis (EC) is a rare congenital condition characterized by a partial or complete defect of the anterior chest wall. It is associated with ventricular and atrial septal defects (ASD), Ebstein's anomaly, truncus arteriosus, transposition of the great vessels, tetralogy of Fallot, and hypoplastic left heart syndrome. This study aimed to explore the cardiac manifestations of EC complicated by coronavirus disease 2019 (COVID‐19). A 23‐year‐old male, born with EC, was admitted to the hospital for acute cough and fever. The patient was diagnosed with EC and ASD by computed tomography and COVID‐19 via a polymerase chain reaction swab test. Patients with ECs rarely survive till adulthood. However, due to the rarity of this syndrome, upon literature review, we did not find a case of EC with concurrent COVID‐19 infection. The patient underwent the required investigations and conventional treatment such as fluid resuscitation, antibiotics administration, and full code cardiopulmonary resuscitation. The interventions performed were unsuccessful, and the patient died. This case demonstrates a patient who lived with EC and its associated cardiac anomalies but died of COVID‐19 and its complications despite full resuscitation attempts. Our findings suggest that patients with EC may survive to adulthood if they have an incomplete EC, fewer intracardiac defects except for ASD, and an absence of an omphalocele.

• abdominoschisis
• body stalk syndrome
• gastroschisis
• limb defects
• limb–body wall complex
• omphalocele
• thoracoschisis

• Exomphalos
• Maternal obesity
• Nulliparity
• Omphalocele
• Risk factors

• abdominal wall defects
• amniotic band syndrome
• body stalk anomaly
• dichorionic diamniotic twin pregnancy
• limb body wall complex

• Body stalk anomaly
• Bradycardia
• Primigravida
• Third-trimester pregnancy

• Alpha-fetoprotein
• Fetal congenital abnormalities
• High-risk pregnancy
• Second trimester screening

• Female
• Humans
• Placenta
• Placenta Diseases
• Pregnancy
• Pregnancy Complications/diagnostic imaging
• alpha-Fetoproteins

• ABS
• BSA
• LBWC
• classification
• definition

The presence of body wall closing defects (abdominoschisis and thoracoabdominoschisis) in combination with other congenital malformations was studied in the pig (Sus scrofa domesticus). After clinical examination and literature review, body wall defects with multiple congenital anomalies in eight pigs were described, and classified using anatomical and embryological criteria. Several BSA presentations were identified and classified as follows: (a) BSA Type I: fetus with spinal and UC defects, thoracoabdominoschisis, anal atresia and/or other internal organs structural defects, and structural limb defects; (b) BSA Type II: fetus with spinal and UC defects, thoracoabdominoschisis, anal atresia and/or other internal organs structural defects, and nonstructural limb defects; (c) BSA Type III: fetus with spinal and UC defects, abdominoschisis, anal atresia and/or other internal organs structural defects, and structural limb defects; and (d) BSA Type IV: fetus with spinal and UC defects, abdominoschisis, anal atresia and/or other internal organs structural defects, and nonstructural limb defects. Two types of LBWC were differentiated: LBWC Type I: characterized by thoracoabdominoschisis and structural limb defects, and LBWC Type II: characterized by abdominoschisis and structural limb defects, corresponding to BSA type I and type III. This is the first report on BSA and LBWC in the pig.

• BSA
• CBW
• LBWC
• pig

• body wall defect classification
• gastroschisis
• omphalocoele
• pig

• abdominal wall
• amniotic band
• fetal
• gastroschisis
• omphalocele
• pentalogy of Cantrell

• Abdominal wall development
• Congenital abdominal wall defect
• Omphalocele

• LBWC
• amelia
• amniotic bands
• body wall defects
• cluster analysis
• limb body wall complex

• OEIS
• body stalk anomaly
• cloacal exstrophy
• fetal MRI
• limb–body wall complex
• pentalogy of Cantrell

Body stalk anomaly is a rare and severe malformation syndrome in which the exact pathophysiology and trigger factors are still unknown. Possible causes of body stalk anomaly include early amnion rupture with direct mechanical pressure and amniotic bands, vascular disruption of the early embryo, or an abnormality in the germinal disk. We present a case of body stalk anomaly diagnosed during antenatal sonographic evaluation at the first visit with the review of literature regarding this phenomenon. Sonographic features of the fetus included a severe midline defect of the fetal abdominal wall with a large extra-abdominal mass containing bowel and liver inside. Body stalk anomaly is accepted as a fatal anomaly, so it is important to differentiate it from other anterior wall defects for evaluating the management options.

• abdominal defect
• body stalk anomaly
• limb-body wall complex
• ultrasound

Ectopia cordis is a congenital heart exposure defined as complete or partial protrusion of heart through ventral defect in the thoracoabdominal wall alone or with other viscera in cases of pentalogy of Cantrell. This condition was first described by Haller et al. in 1706; since then many advances have been made. Diagnosis of ectopia cordis is done prenatally in well-equipped health facility by antenatal ultrasound scan so that early diagnosis and management plan can be initiated. The index case was delivered to uneducated rural family and admitted at 3 days of life and survived for seven days, even though most literatures state that majority died within four days even with surgery. So, in view of this, we presented this case report to deliberately draw the attention of paediatrician/obstetrician to the fact that even though this condition is rare, proactive search and diagnosis should be made and early treatment should be instituted, so that such a child may be salvaged.

• amnion rupture sequence
• amniotic band syndrome
• body wall defect
• classification
• limb deficiency
• prevalence

Body stalk anomaly (BSA) and amniotic band syndrome (ABS) are rare similar fetal sporadic polymalformative syndromes of unknown etiology, though there are certain differences between them. BSA is a combination of developmental abnormalities involving neural tube, body wall, and the limbs with persistent extra embryonic coelomic cavity. ABS is characterized by the presence of thin membrane-like strands attached to fetal body parts and causing constrictions and amputations. This is a cohort study involving 32,100 patients who were referred for routine antenatal ultrasound scan. The data was entered prospectively into a computer database. The duration of study was 3 years. In our study, ultrasound examination in 86 patients demonstrated ventral wall defects, craniofacial defects, and spinal and limb deformities as isolated or combined abnormalities. In those, 10 patients were suspected/diagnosed as BSA/ABS including a twin of a dichorionic diamniotic gestation. The typical features of body stalk anomaly can be detected by ultrasound by the end of the first trimester, which is important for the patient counselling and management. We are presenting these rare conditions and highlighting the importance of early sonographic imaging in diagnosing and differentiating them from other anterior abdominal wall defects.

Le syndrome des brides amniotiques est une embryo-foetopathie rare, d’étiopathogénie encore inconnue, caractérisé par des malformations crânio-faciales, thoraco-abdominales, des membres et des extrémités. Afin de discuter des difficultés diagnostiques et thérapeutiques du syndrome des brides amniotiques, nous rapportons cinq cas de ce syndrome. Ces cas représentaient autant de phénotypes de la maladie mais avec quelques singularités. Les deux premiers étaient des cas de maladie des brides amniotiques caractérisés l'un par une amputation d'un membre inférieur associée à des lésions cutanées et à une surdité, l'autre par des strictions avec amputation des doigts associées à une fente labio-palatine, une cataracte congénitale et un strabisme. Les trois autres cas correspondaient à des formes létales du Limb Body Wall Complex dont deux avec attache placento-crânienne et un avec attache placento-abdominale. Le renforcement du diagnostic anténatal, l'instauration du conseil génétique et la mise en place d'un registre national des malformations devraient permettre d'améliorer la prise en charge des cas du syndrome des brides amniotiques.

• Amniotic Bands Syndrome
• Limb Body Wall Complex
• embryofoetopathies
• genetic counseling

Body stalk anomalies are a group of massively disfiguring abdominal wall defects in which the abdominal organs lie outside of the abdominal cavity in a sac of amnioperitoneum with absence of or very small umbilical cord. Various hypotheses proposed to explain the pathogenesis of limb body wall complex include early amnion disruptions, embryonic dysplasia, and vascular disruption in early pregnancy. Body stalk anomaly is an accepted fatal anomaly and, hence, its early diagnosis aids in proper management of the patient.

• Abdominal defects
• body stalk complex
• limb body wall complex
• ultrasound

• absent gallbladder
• body stalk anomaly
• genes
• limb body wall complex (lbwc)
• polysplenia
• short umbilical cord

• Amniotic Band Syndrome
• Amniotic Bands
• Bandas amnióticas
• Streeter Syndrome
• Síndrome de Streeter
• Síndrome de bandas amnióticas

OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect. We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC). This case further supports the view that OEIS and LBWC represent a continuous spectrum of abnormalities rather than separate conditions and may share a common etiology and pathogenetic mechanism as proposed by some authors.

• Body stalk anomaly
• OEIS complex (omphalocele, exstrophy of cloaca, imperforate anus and spinal defect)
• limb body wall complex

• Chornobyl
• blastopathies
• congenital malformations
• ionizing radiation
• sex ratio

• Abnormalities, Radiation-Induced/epidemiology
• Abnormalities, Radiation-Induced/etiology
• Chernobyl Nuclear Accident
• Female
• Humans
• Male
• Microcephaly/epidemiology
• Microcephaly/etiology
• Microphthalmos/epidemiology
• Microphthalmos/etiology
• Neural Tube Defects/epidemiology
• Neural Tube Defects/etiology
• Prevalence
• Teratoma/epidemiology
• Teratoma/etiology
• Twins, Conjoined
• Ukraine/epidemiology

• Amputation
• trachelectomy
• twin pregnancy
• uterine surgery
• vestige

We present autopsy findings of a case of limb body wall complex (LBWC). The fetus had encephalocele, genitourinary agenesis, skeletal anomalies and body wall defects. The rare finding in our case is the occurrence of both cranial and urogenital anomalies. The presence of complex anomalies in this fetus, supports embryonal dysplasia theory of pathogenesis for LBWC.

• Encephalocele
• limb body wall anomaly
• skeletal anomalies
• urogenital agenesis

Limb body wall complex (LBWC) is a rare clinicopathological entity, characterized by the presence of an abdominal wall defect associated with variable spectrum of limb and visceral anomalies. A stillborn baby of LBWC with placentoabdominal phenotype is reported here. Kyphoscoliosis, sacrococcygeal mass and agenesis of external genitalia are the associated features.

• Abdominal Wall/abnormalities
• Abdominal Wall/diagnostic imaging
• Abnormalities, Multiple/diagnostic imaging
• Abortion, Eugenic
• Adult
• Craniofacial Abnormalities/diagnostic imaging
• Female
• Fetal Diseases/diagnostic imaging
• Humans
• Imaging, Three-Dimensional
• Pregnancy
• Pregnancy Trimester, First
• Ultrasonography, Prenatal
• Upper Extremity Deformities, Congenital/diagnostic imaging

• Ectopia Cordis/pathology
• Fatal Outcome
• Humans
• Infant, Newborn
• Male
• Thorax/abnormalities

• Abdomen/abnormalities
• Abdomen/diagnostic imaging
• Abnormalities, Multiple/diagnostic imaging
• Abnormalities, Multiple/mortality
• Adult
• California/epidemiology
• Female
• Humans
• Imaging, Three-Dimensional/statistics & numerical data
• Incidence
• Male
• Middle Aged
• Pregnancy
• Pregnancy Trimester, First
• Reproducibility of Results
• Risk Assessment
• Risk Factors
• Sensitivity and Specificity
• Survival Analysis
• Survival Rate
• Syndrome
• Ultrasonography, Prenatal/statistics & numerical data
• Umbilical Cord/abnormalities
• Umbilical Cord/diagnostic imaging

• Abnormalities, Multiple/diagnostic imaging
• Abortion, Induced
• Adult
• Female
• Fetal Diseases/diagnostic imaging
• Humans
• Imaging, Three-Dimensional
• Ultrasonography, Prenatal/methods
• Urinary Bladder/abnormalities

• Abdominal wall defects
• Limb-body-wall complex
• Ultrasonography

• Abnormalities, Multiple/diagnosis
• Embryo Transfer
• Female
• Fertilization in Vitro
• Humans
• Infant, Newborn
• Limb Deformities, Congenital
• Middle Aged
• Oocyte Donation
• Pregnancy
• Pregnancy Outcome
• Prenatal Diagnosis
• Twins, Dizygotic

• amniotic band syndrome
• limb body wall complex and pathogenesis