Spinal dysraphism, club feet, and dextrocardia with situs inversus totalis in a neonate: a rare association and review
-
Surasak Puvabanditsin
,
Akreeti Maskey
Abstract
Objectives
The spinal dysraphism and situs inversus are a rare association. Since 1909, reports on the coincidence of malformations of the spine and gastrointestinal tract have been published. So far there is no plausible explanation for the association.
Case presentation
We report a term female infant with spinal dysraphism with club feet associated with dextrocardia and situs inversus totalis. Whole genome SNP microarray analysis was normal. However, there are extended contiguous regions of allele homozygosity [>8 Mb[megabase]) observed in chromosome 6 and 14.
Conclusions
We report a rare association of spinal dysraphism and situs inversus totalis in a neonate. We review the literature. There have recently been theorized by some to in fact represent nothing more than the presence of two or more polytopic field defects, with all the anomalies present sharing a common molecular basis.
Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: Research involving human subjects complied with all relevant national regulations, institutional policies and is in accordance with the tenets of the Helsinki Declaration (as revised in 2013), and has been approved by the authors’ Institutional Review Board or equivalent committee.
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Artikel in diesem Heft
- Case Reports – Obstetrics
- Fetal pulmonary choristoma: report of first case and literature review
- Ultrasound prenatal diagnosis of a de novo 14q distal duplication associated with foetal anomalies: a case report
- Prenatal diagnosis of Kleefstra syndrome
- Cardiac implant and the risk of infective endocarditis in pregnancy
- Iatrogenic fetal goiter. Conservative management and spontaneous resolution
- Management in cases of large uterine myomas in pregnancy
- Significantly enlarged varix in the free-loop of the umbilical cord during the second trimester
- A case report of co-infection with rhinovirus and SARS-CoV-2 in pregnancy
- Monoamniotic twins pregnancy complicated by a fetal congenital heart defect – a challenge for perinatal decisions
- Favorable outcome after nine minutes of shoulder dystocia preceded by a tight nuchal cord
- Circumvallate placenta and abnormal cord insertion as risk factors for intrauterine growth restriction and preterm birth: a case report
- A rare case of intra-uterine blood transfusion for fetal anemia caused by a giant placental chorioangioma
- Septated fetal bladder in a case of 2q13 deletion
- A case of prenatal diagnosis of single umbilical artery due to thrombosis diagnosed by the ultrasound finding of “wink-sign”
- Ultrasound diagnosis of myelomeningocele: the role of 3D ultrasonography in determining surficial status of the pathological lesion
- Pragmatic approach and variations in the management of pregnant women with type 1 diabetes mellitus on insulin pump: a case series
- A great pre-eclampsia masquerader. Hemophagocytic lymphohistiocytosis (HLH) presenting in pregnancy
- Survival of both twins in a pregnancy complicated by pre-viable cord prolapse at 21 weeks of gestation
- A case report of a pregnant woman diagnosed with intrahepatic cholangiocarcinoma (ICC) complicated by opioid tolerance
- Prenatal and postnatal imaging of an intrapericardial teratoma
- Case report of a ruptured uterine sacculation in the 19th week of pregnancy
- Is thromboelastography reliable in postpartum coagulopathies? Two case reports and a literature review
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- Case Reports – Fetus
- A case of diprosopus: a rare form of twinning radiology-pathology correlation
- Case Reports – Newborn
- Transmission of SARS-CoV-2 to premature twins from an asymptomatic mother
- Spinal dysraphism, club feet, and dextrocardia with situs inversus totalis in a neonate: a rare association and review
- Giant congenital vascular malformation: diagnostic approach and clinical course
- Transient neonatal myasthenia gravis following maternal myasthenia gravis presenting in pregnancy after treatment with Alemtuzumab
- Congenital pulmonary lymphangiectasia in an extremely low birth weight: a case report
- Congenital kaposiform hemangioendothelioma: don’t let the appearances fool you
- Agnathia-otocephaly complex: a case report and a literature review on recurrence risk
- Perinatal severe hypophosphatasia: a case report
- Recurrent neonatal group B streptococcus cellulitis and adenitis syndrome with late-onset sepsis
- Neonatal hypertension caused by left-to-right shunt flow through a patent ductus arteriosus in a premature infant
- Maternal Babesia infection associated with neonatal extramedullary hematopoiesis and acute myeloid leukemia in late infancy
- Congenital high airway obstruction syndrome complicated with foregut malformation and high airway fistula to the alimentary tract – a case series with four distinct types
- Aplasia cutis congenita as a consequence of fetal reduction in a triplet pregnancy
- Anhydramnios, but prenatally normal kidneys: renal tubular dysgenesis – patient with mutations in the renin-angiotensin system gene AGTR1
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