Congenital thoracoabdominal wall defects in dogs are uncommon and challenging to classify due to their overlapping anatomical and developmental features. This study analyzes three original canine cases alongside 17 published cases to clarify the relationships among Cantrell syndrome (CS), amniotic band syndrome (ABS), and body stalk anomaly (BSA). All of the original cases exhibited thoracoabdominal involvement with variations in umbilical cord morphology and associated anomalies. A comparative analysis revealed that these conditions form a syndromic continuum rather than distinct entities, influenced by the timing and mechanism of embryonic disruption. Early developmental insults were associated with multisystem malformations resembling CS or BSA, whereas later vascular disruptions produced more localized defects, such as gastroschisis. Umbilical cord morphology emerged as a key diagnostic discriminator across cases. Based on these findings, we developed an anatomically driven diagnostic decision tree to support clinical evaluation when information is incomplete. This study emphasizes the importance of integrating embryologic context with anatomical assessment and identifies significant gaps in molecular and genetic data. A developmental continuum model offers a more flexible, clinically meaningful framework for diagnosing congenital body wall defects in dogs.

Limb body wall complex is a rare polymalformative syndrome which consists of an abdominal and/or thoracic wall defect with an extremely short umbilical cord associated with kyphoscoliosis, intestinal malrotation, and lower limb defects. A 31-year-old primigravida presented with monochorionic monoamniotic twin pregnancy with discordant anomaly. One fetus had exomphalos, acrania, bilateral talipes, a single umbilical artery, kyphoscoliosis and a short umbilical cord, findings suggestive of limb body wall complex. An ultrasound one week later revealed an unfortunate intrauterine fetal demise of both twins. The postmortem examination confirmed the antenatal diagnosis of limb body wall complex. Since the parents were anxious to avoid any risk of recurrence in subsequent pregnancies, skin samples of both babies were sent for genetic workup. The Chromosomal Micro Array of both fetuses was reported to be normal. Different pathophysiologic mechanisms have been proposed to explain the anomalies associated with limb body wall complex. These include early amnion rupture, vascular disruption, and embryonic maldevelopment. Differential diagnosis must be made with isolated gastroschisis, isolated omphalocele, and other polymalformative syndromes such as pentalogy of Cantrell. Early morphological assessment of the fetus at the time of the first-trimester screening scan can be of utmost importance to diagnose a polymalformative syndrome, which may be incompatible with life. An omphalocele, even in the absence of genetic or chromosomal abnormalities, may be associated with a lethal syndrome, that is, limb body wall complex. This should specifically be thought of and searched for, especially in fetuses who present with omphalocele in combination with curvature abnormalities of the spine.

Background/Objectives: To identify distinct sonographic phenotypes of complex malformations of the fetal ventral wall. Methods: We performed a retrospective analysis of ultrasound reports from 160 fetuses diagnosed with complex ventral wall defects at a single tertiary referral center between 1997 and 2021. Agglomerative hierarchical clustering was applied to identify distinct sonographic phenotypes based on the level of the ventral wall defect and associated anomalies. Results: Ventral wall defects involved the abdominal wall in 150 cases, the thoracic wall in 42 cases, and the pelvic wall in 28 cases, either in isolation or in combination. Open neural tube defects were present in 58 fetuses (36.3%), spinal defects in 110 fetuses (68.8%), and limb anomalies in 45 fetuses (28.1%). Additional anomalies were identified in 38 fetuses (23.8%), including cardiac anomalies in 18 cases (11.3%). Amniotic bands were observed in seven cases (4.4%). Using agglomerative hierarchical clustering, five groups of fetuses with differing numbers of observations were identified (cluster 1, n = 104; cluster 2, n = 5; cluster 3, n = 30; cluster 4, n = 10; cluster 5, n = 11). The silhouette score of the clustering model was 0.3285. The most discriminative features for each cluster, expressed as feature importance values, were as follows: kyphoscoliosis for cluster 1 (0.924), pelvic wall defect for cluster 2 (0.852), ectopia cordis for cluster 3 (0.662), limb anomalies for cluster 4 (0.767), and spina bifida for cluster 5 (0.691). Conclusions: Complex malformations of the fetal ventral wall are associated with a wide spectrum of additional anomalies. Hierarchical clustering identified five distinct sonographic phenotypes of complex ventral wall defects, highlighting the heterogeneity of these conditions.

This study aimed to provide a clinical reference for prenatal diagnosis by summarizing the ultrasound manifestations and classifications of fetal limb-body wall complex (LBWC). We retrospectively reviewed cases of LBWC diagnosed through prenatal ultrasound examination at Peking Union Medical College Hospital and Xuzhou Maternal and Child Health Hospital between 2012 and 2023. The primary prenatal ultrasound imaging features and associated malformations were recorded and classified into two categories based on the presence (type I) or absence (type II) of craniofacial anomalies. Among 37 fetuses with LBWC, 4 were classified as type I, 31 were classified as type II, and 2 exhibited features of both type I and type II concurrently. All fetuses had varying degrees of thoracoschisis or gastroschisis with visceral herniation. A total of 35 fetuses had limb abnormalities, and 11 had craniofacial abnormalities. All fetuses showed varying degrees of spinal curvature, and 23 had umbilical cord abnormalities. In addition, 32 fetuses had other abnormalities, including a persistent extraembryonic coelom in 12 fetuses, an amniotic band in 9 fetuses, nuchal translucency thickening in 5 fetuses, nuchal cystic hygroma in 3 fetuses, an invisible bladder in 2 fetuses, and external genital anomalies in 1 fetus. All cases resulted in induced termination. Fetal LBWC has characteristic ultrasonographic features and can be diagnosed in the first trimester. An accurate prenatal ultrasound assessment is essential to enable clinicians to offer future parents the necessary information and counseling concerning the prognosis of this type of anomaly.

Pentalogy of Cantrell (POC) is a rare and often fatal congenital malformation characterized by a midline developmental defect involving five anatomical structures: the lower sternum, anterior diaphragm, diaphragmatic pericardium, abdominal wall, and heart. This condition presents significant diagnostic and therapeutic challenges, particularly in resource-limited settings where advanced imaging and surgical interventions are limited. Early diagnosis, supportive care, and strategic surgical planning with a multidisciplinary team are all key components in managing patients with POC. Here we present a case of a 32-year-old female (Gravidity 2 Parity 1 Living 1) presented to our specialty hospital in Northern Tanzania at 31 weeks and 3 days of gestational age for regular antenatal visit clinic with a complain of mild lower abdominal pain for 1 week. Obstetric ultrasound revealed a single fetus with an estimated gestational age of 31 weeks and 3 days and a 3.3 cm anterior chest wall defect with partial cardiac herniation, along with herniation of the liver, bowel, kidney, and urinary bladder with thoracolumbar kyphotic deformity was also seen. The radiological findings were consistent with limb body wall complex syndrome and POC. A multidisciplinary board team of obstetrician, pediatricians, surgeons and radiologist discussed the patient and planned for medical termination of the pregnancy. The patient was discharged home after receiving a psychological care. Psychological support was provided, and the patient remained emotionally stable during the follow-up. This case highlights the antenatal diagnostic and postnatal management challenges of POC in resource-constrained settings. Patients diagnosed with this condition should receive thorough antenatal counseling regarding the associated risks of morbidity and mortality. Currently, there are no established guidelines or studies defining the optimal mode of delivery for these cases. In case of severe malformations and or confirmed chromosomal abnormalities, and where legally permissible, pregnancy termination may be considered.