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The Turkish Journal of Pediatrics 2017Ardıçlı B, Karaman A, Özyazıcı A, Zenciroğlu A, Okumuş N. Isolated thoracoschisis: Case report. Turk J Pediatr 2017; 59: 217-220. Thoracoschisis is a rare...
Ardıçlı B, Karaman A, Özyazıcı A, Zenciroğlu A, Okumuş N. Isolated thoracoschisis: Case report. Turk J Pediatr 2017; 59: 217-220. Thoracoschisis is a rare congenital anomaly that refers to a congenital fissure of the chest wall. It is frequently accompanied with other congenital defects of the limbs and the abdominal wall as part of the limb-body wall complex, which is exencephaly/encephalocele and facial clefts, thoracoschisis and/or abdominoschisis and limb defects. Isolated thoracoschisis is a rare entity. We present a case of isolated thoracoschisis. A 24-week gestational age boy presented with a 3 cm chest wall defect in the left lateral 10th intercostal space and intestines herniating through the defect. There was no history of maternal drug use during pregnancy. Birth weight was 500 g. He underwent surgery. The intestines were reduced via the thoracic wall defect.
Topics: Abdominal Wall; Abnormalities, Multiple; Fatal Outcome; Gestational Age; Humans; Infant, Newborn; Infant, Premature; Limb Deformities, Congenital; Male; Radiography, Thoracic; Rare Diseases; Thoracic Wall
PubMed: 29276880
DOI: 10.24953/turkjped.2017.02.019 -
Journal of Neonatal Surgery 2017A term male baby, after delivery, was found to have a 3-centimeter beefy-red mass protruding from the left chest wall, adjacent to the left nipple. Radiological imaging...
A term male baby, after delivery, was found to have a 3-centimeter beefy-red mass protruding from the left chest wall, adjacent to the left nipple. Radiological imaging suggested it's origin from the left lateral liver segment. A diagnostic laparoscopy confirmed the isolated connection to the liver, elevated left hemidiaphragm, and protrusion between the ribs. The mass was excised using electrocautery, and pathologic examination showed normal liver tissue.
PubMed: 28920025
DOI: 10.21699/jns.v6i3.581 -
APSP Journal of Case Reports 2017Thoracoschisis is a rare condition. A female newborn presented with right-sided thoracoschisis, associated with diaphragmatic hernia and protrusion of an accessory liver...
Thoracoschisis is a rare condition. A female newborn presented with right-sided thoracoschisis, associated with diaphragmatic hernia and protrusion of an accessory liver lobe through the chest wall defect along with deformity of the right forearm and hand duplication. Diagnosed as part of the limb-body wall complex (LBWC), management included resection of the exteriorized liver lobe followed by right hemidiaphragm and thoracic wall reconstruction.
PubMed: 28540190
DOI: 10.21699/ajcr.v8i3.568 -
World Journal of Clinical Cases Jul 2023Limb body wall complex (LBWC) is a fatal malformation characterized by major defects in the fetal abdominal or thoracic wall, visceral herniation, significant scoliosis...
BACKGROUND
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 wk) standardized prenatal ultrasound examinations have been widely promoted and applied.
AIM
To explore the value of prenatal ultrasound in the diagnosis of fetal LBWC syndrome during early pregnancy.
METHODS
The ultrasonographic data and follow-up results of 18 cases of fetal LBWC diagnosed by prenatal ultrasound during early pregnancy (11-13 wk) were retrospectively analyzed, and their ultrasonographic characteristics were analyzed.
RESULTS
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.
CONCLUSION
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.
PubMed: 37469738
DOI: 10.12998/wjcc.v11.i19.4544 -
The American Journal of Case Reports Dec 2019BACKGROUND Thoracoschisis is a very rare congenital birth defect defined by the herniation of intra-abdominal organs through a defect in the thoracic wall. Though often...
BACKGROUND Thoracoschisis is a very rare congenital birth defect defined by the herniation of intra-abdominal organs through a defect in the thoracic wall. Though often associated with other birth defects as a part of the "limb-body wall complex" deformities, thoracoschisis has very rarely been reported as an isolated finding. CASE REPORT Here we present the case of a 30-day-old term male infant with an isolated left thoracoschisis managed successfully by primary closure. The patient was monitored postnatally in the Neonatal Intensive Care Unit (NICU) of Maputo Central Hospital because of the presence of a herniated mass through a left chest wall defect below the left nipple. Computed tomography (CT) scans suggested the presence of a left diaphragmatic hernia, left rib agenesis, and herniation of an unidentifiable intra-abdominal organ through the anterior left chest wall. On day of life (DOL) 30, when global health outreach pediatric surgeons arrived at the hospital, the decision was made to operate on the child. The mass was found to be of liver origin, the exposed tissue was excised, and primary closure of the chest wall was accomplished. The patient's postoperative course involved a wound infection that resolved favorably with treatment, allowing for discharged home on postoperative day (POD) 17 in stable condition. CONCLUSIONS Our case report highlights the importance of recognizing this rare condition and directing appropriate surgical care.
Topics: Congenital Abnormalities; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Liver Diseases; Male; Rare Diseases; Ribs; Thoracic Wall; Tomography, X-Ray Computed
PubMed: 31862868
DOI: 10.12659/AJCR.919125 -
Journal of Indian Association of... Apr 2012A rare case of thoracoschisis, diaphragmatic and supraumbilical abdominal wall defect with right upper limb agenesis in a neonate is reported.
A rare case of thoracoschisis, diaphragmatic and supraumbilical abdominal wall defect with right upper limb agenesis in a neonate is reported.
PubMed: 22529555
DOI: 10.4103/0971-9261.93972 -
AJP Reports Oct 2018To ascertain if useful criteria for prenatal diagnosis of fetal ventral body wall defects (VBWDs) exists by reviewing published literature on diagnosis of VBWD as...
To ascertain if useful criteria for prenatal diagnosis of fetal ventral body wall defects (VBWDs) exists by reviewing published literature on diagnosis of VBWD as compared with our own diagnostic experience. A comprehensive literature review of diagnostic criteria of fetal VBWD including pentalogy of Cantrell (POC), omphalocele, exstrophy, imperforate anus, spina bifida (OEIS), cloacal exstrophy, limb-body wall complex (LBWC), and body stalk anomaly was performed followed by a retrospective review of all fetal magnetic resonance imaging (MRI) examinations from our medical center over a 2-year period. Classically, OEIS is omphalocele, bladder exstrophy, imperforate anus, and spina bifida. POC is defects of the supraumbilical abdomen, sternum, diaphragm, pericardium, and heart. LBWC is two of the following: exencephaly or enencephaly with facial clefts, thoracoschisis or abdominoschisis, and limb defects. Twenty-four cases of VBWD on MRI over a 24-month period were identified with seven cases involving defects of additional organ systems. Six of these seven cases demonstrated findings from two or more of the traditional diagnoses POC, OEIS, and LBWC making diagnosis and counseling difficult. There is a lack of consensus on useful diagnostic criteria within the published literature which is reflected in our own diagnostic experience and poses a challenge for accurate prenatal counseling.
PubMed: 30377551
DOI: 10.1055/s-0038-1675353 -
AJP Reports Jan 2022The limb-body wall complex (LBWC) aka body stalk syndrome is an uncommon congenital disorder characterized by severe malformations of limb, thorax, and abdomen,...
The limb-body wall complex (LBWC) aka body stalk syndrome is an uncommon congenital disorder characterized by severe malformations of limb, thorax, and abdomen, characterized by the presence of thoracoschisis, abdominoschisis, limb defects, and exencephaly. This condition is extremely rare with an incidence of 1 per 14,000 and 1 per 31,000 pregnancies in large epidemiologic studies. Majority of these malformed fetuses end up with spontaneous abortions. We present this rare case with occurrence in a preterm infant of 35 weeks' gestation. Our report highlights majority of the clinical presentations as reported in previous literature, but the significant pathological findings of absent genitalia and malformed genitourinary as well as anorectal malformations make this case presentation an even more rare occurrence. Infant karyotyping was normal male and there is no specific underlying genetic correlation in this condition which has a fatal prognosis.
PubMed: 35265395
DOI: 10.1055/s-0042-1744215 -
European Journal of Pediatric Surgery... Jun 2015A full-term male baby presented at day 2 postnatal with Riedel liver lobe, stomach, and much of the bowel herniating through a thoracic wall defect located just above...
A full-term male baby presented at day 2 postnatal with Riedel liver lobe, stomach, and much of the bowel herniating through a thoracic wall defect located just above and lateral to the left nipple. Operative conversion into a gastroschisis-like defect with construction of a silo bag was done. On thorough review of literature, it was found that this is only the second male infant reported with isolated thoracoschisis.
PubMed: 26171314
DOI: 10.1055/s-0034-1396013 -
Journal of Medical Genetics Jul 1989The hypothesis of an intrinsic defect of germ plasma put forward by Streeter to explain the abnormalities observed in 'amniotic bands sequence' (ABS) was not supported...
The hypothesis of an intrinsic defect of germ plasma put forward by Streeter to explain the abnormalities observed in 'amniotic bands sequence' (ABS) was not supported by Torpin, who suggested that the bands derived from early amnion rupture, with formation of mesodermal strings and naked chorion, which then constricted or adhered to fetal parts. Recently, several authors have recorded and discussed possible mechanisms for 'non-band related' malformations in patients with otherwise typical limb constrictions and amputations. The mouse mutant disorganisation (Ds) is a semidominant with 72% of heterozygotes manifesting abnormalities, which include cranioschisis, limb duplications and deficiencies, gastro/thoracoschisis, and papillae protruding from other parts of the body. We report similar abnormalities including papillae in five fetuses and one newborn with ABS and, based on these observations and published reports, we suggest that a human homologue for Ds may be the cause of at least some examples of ABS.
Topics: Abnormalities, Multiple; Amnion; Amniotic Band Syndrome; Animals; Female; Genes; Humans; Infant, Newborn; Male; Mice; Mice, Mutant Strains; Rupture, Spontaneous
PubMed: 2746613
DOI: 10.1136/jmg.26.7.421