Severe Intrauterine Amputations in One Dichorionic Twin With Pentalogy of Cantrell: Further Evidence and Consideration for Mechanical Teratogenesis.

Pentalogy of Cantrell (PC) is characterized by midline supraumbilical abdominal wall defect, lower sternum defect, anterior diaphragmatic and pericardial defect, and congenital cardiac anomalies. Several etiological influences have been postulated, however, most of the reported cases are sporadic. In addition, evidence for mechanical teratogenesis in PC is limited. Here, we describe in one dichorionic twin with complete PC, additional severe intrauterine amputations (mainly head and neck) not previously reported resultant from mechanical teratogenesis. This morphologic constellation prompts us to emphasize the consideration of this etiological influence and provides further evidence. In fact, the pattern of anomalies in the affected fetus provides new insight into the severity and presentation of PC due to mechanical teratogenesis, which is a significant etiological consideration in clinical evaluation and implies that the syndrome involves a complex defective fetal development.

Pentalogy of Cantrell: Case Report With Review of the Literature.

BACKGROUND: Pentalogy of Cantrell is a rare, congenital disorder characterized by lower sternal defects, diaphragmatic defect, pericardial defect, supraumbilical abdominal wall abnormalities, and/or intracardiac defects. The collective defects result from failure of either differentiation or migration of mesenchymal or mesodermal structures during the embryonic phase of development. Mortality of the disease complex is high, and treatment, when appropriate, revolves around surgical correction of the associated defects. PURPOSE: This article presents a case of pentalogy of Cantrell and examines the literature to report the most current evidence relative to the embryology and pathophysiology. In addition, the methods of pre- and postnatal diagnosis, management, and prognostic indicators are examined. METHODS/SEARCH STRATEGY: Case report was gathered from the medical records and is provided as it occurred. The literature was searched for evidence of best management strategies as well as care implications for families. FINDINGS/RESULTS: A female newborn was delivered at (Equation is included in full-text article.)weeks' gestation secondary to premature onset of labor. Prenatal ultrasonography identified an abdominal wall defect, diaphragmatic hernia, sternal defect, ventricular septal defect, and open neural tube defect. Examination immediately after delivery confirmed prenatal findings and a diagnosis of pentalogy of Cantrell was assigned. IMPLICATIONS FOR PRACTICE: Patients with the diagnosis of pentalogy of Cantrell should receive antenatal counseling relative to mortality and morbidity risks. An interprofessional approach in the immediate timeframe after delivery facilitates timely diagnostics and offers families prompt confirmation of antenatal findings. IMPLICATIONS FOR RESEARCH: Future research can focus on further elucidating genetic etiologies of pentalogy of Cantrell.

5, 4, 3, 2, 1: embryologic variants of pentalogy of Cantrell.

BACKGROUND: The purpose of this study was to evaluate our experience with pentalogy of Cantrell and the various embryologic variants. MATERIALS AND METHODS: Patient charts and diagnostic imaging studies of all fetuses evaluated at Texas Children's Fetal Center for pentalogy of Cantrell between April 2004 and June 2014 were reviewed retrospectively. Data collected from patient charts included demographic information, clinical presentation, fetal and postnatal imaging findings, operative treatment, pathologic evaluation, and outcomes. RESULTS: There were 10 patients who presented with embryologic variants of pentalogy of Cantrell over a 6-y period. Two cases displayed the full range of embryologic defects observed, and eight cases exhibited variants of the classic pentalogy. Sternal and pericardial defects were each present in 40% of patients. Additional anomalies present included pulmonary hypoplasia, pulmonary artery stenosis, and chromosomal abnormalities. Four patients presented with diaphragmatic defects but no defect in the pericardium, and one patient presented with a defective pericardium but no associated diaphragmatic defect, suggesting highly specific losses of somatic mesoderm during embryologic development. One patient was lost to follow-up, and a second patient underwent termination of pregnancy. Five of the remaining eight patients survived, one of which had the full range of embryologic defects and now attends preschool but requires speech and occupational therapy. The remaining surviving patients have developed without serious sequelae. CONCLUSIONS: This report highlights the spectrum of anomalies observed in the pentalogy of Cantrell and demonstrates that these fetuses can survive but with substantial morbidity.

Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report.

The pentalogy of Cantrell, a rare syndrome, consists of the defects in the anterior diaphragm, diaphragmatic pericardium, lower sternum and supraumbilical abdominal wall, along with congenital cardiac abnormalities. Till date, only few patients with full spectrum of this syndrome have been reported with only 2 cases showing associated exencephaly and spinal dysraphism. We report extremely rare association of complete pentalogy of Cantrell syndrome with exencephaly and spinal dysraphism on antenatal sonogram and autopsy in a 18 weeks fetus of a 19 year-old primi gravida female.

[Prenatal diagnosis of pentalogy of Cantrell associated to bilateral cleft lip. A case report]. / Diagnóstico prenatal de la pentalogía de Cantrell concomitante con labio hendido bilateral. Reporte de un caso.

The pentalogy of Cantrell is a rare congenital syndrome characterized by deficiency of the anterior diaphragm and defects of abdominal wall, the pericardium, the lower sternum, as well as congenital intracardiac abnormalities. It has usually a poor prognosis, but most cases have had incomplete variants of this syndrome, so it is important to make a prenatal diagnosis to determine the size of the wall defect and to establish a multidisciplinary management. Less than 90 cases have been reported in the world literature. There are no casuistic or even treatment criteria in Latin America. A case of a newborn in whom was suspected this pentalogy associated to bilateral cleft lip by an ultrasound examination at 25 week of gestation is described. We also comment on diagnostic aspects, as well as anatomopathological, therapeutic, and prognostic characteristics.