Caudal regression sequence: vascular origin?

Hentschel, Juliane; Stierkorb, Eva; Schneider, Günter; Goedde, S; Siemer, Stefan; Gortner, Ludwig

doi:10.1038/sj.jp.7211534

Cited by 15 publications

(16 citation statements)

References 6 publications

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“…11,12 Additionally, recent findings lead to the hypothesis that the pathogenesis of CRS results from a vascular ''steal effect'' by the former vitelline artery, which then disappears in the embryonic and fetal development. 13 The present case shows that a VACTERL syndrome and CRS can coexist in pregnancy. The final diagnosis must be made by karyotype study, careful family history, attentive second-trimester US examination, and autopsy studies.…”

Section: 5mentioning

confidence: 50%

Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: A previously unreported association

Gedikbaşı¹,

Yararbaş²,

Yıldırım³

et al. 2009

J of Clinical Ultrasound

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We describe a case of VACTERL syndrome associated with type 1 unilateral caudal regression syndrome. The abnormal sonographic findings at 26 weeks included hemivertebrae, scoliosis, hypoplastic and deformed lumbar spine and sacrum, preaxial polydactyly on the left hand, duplicated hallux on the left foot and hemihypoplasia of the left lower limb, bilateral club foot, and single umbilical artery. Postmortem examination confirmed prenatal sonographic findings with additional findings of supernumerary rib at the lumbar level and anal atresia.

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Section: 5mentioning

confidence: 50%

Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: A previously unreported association

Gedikbaşı¹,

Yararbaş²,

Yıldırım³

et al. 2009

J of Clinical Ultrasound

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“…Many of these are well known, especially those associated with the aorta, heart, and umbilical artery 1,2. Vitelline variants have also been found which are either associated with Meckel’s diverticulum or caudal regression syndrome 3,4. We present a case of anomalous intercostal arterial supply, which to our knowledge has not been reported previously.…”

mentioning

confidence: 77%

Solitary Intercostal Arterial Trunk

Chang

Rubin

2009

Circ: Cardiovascular Imaging

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D uring embryonic life, events may alter the normal growth and fusion of the endocardial tube, the paired dorsal aortae, and the vitelline plexus, leading to anomalies and variants of the mature axial arterial system. 1 Many of these are well known, especially those associated with the aorta, heart, and umbilical artery. 1,2 Vitelline variants have also been found that are either associated with Meckel diverticulum or caudal regression syndrome. 3,4 We present a case of anomalous intercostal arterial supply, which, to our knowledge, has not been reported previously. The aberrant intercostal trunk is associated with aberrant descending thoracic aorta position, a replaced common hepatic artery from the superior mesenteric artery, and an isolated splenic artery origin from the aorta.A 27-year-old man with a medical history of irritable bowel syndrome and stage I hypertension presented for renal vasculature evaluation. A renal arterial magnetic resonance angiogram (not shown) and subsequent thoracoabdominal computed tomography (CT) angiogram [64-row multidetector-row computed tomography (MDCT), 1.0-mm section thickness after intravenous injection of 600 mgI/kg Isovue 370] demonstrated normal renal arteries and an anomalous branch artery arising from the posterior aspect of the aorta at the level of T12 with median ascension, terminating at T3. The artery gradually tapered from its 7-mm diameter origin to its terminus and supplied the third through twelfth intercostal arteries bilaterally (Figure 1). This "anomalous intercostal trunk" coursed between the thoracic spine and the descending thoracic aorta, which was elevated 23 mm anterior to the thoracic vertebral bodies and was in close association with the esophagus (Figure 2). An additional posterior trunk arose at the level of T6 and ascended superiorly to supply the first and second intercostals spaces. Associated with this anomaly was an isolated splenic artery Figure 1. Frontal volume-rendered CT angiogram demonstrates the T4 -T12 intercostal arteries arising from the anomalous intercostal trunk arising from the aorta at the T12 level (arrow). Figure 2.Transverse CT section demonstrates centralized apices of the hemidiaphragms. In the upper abdomen, the aorta (A) is anteriorly displaced from the vertebrae and the anomalous trunk (curved arrow) occupies the prevertebral space. Fat occupies the space in the middle mediastinum between the aorta and vertebrae. The online-only Data Supplement is available at http://circimaging.ahajournals.org/cgi/content/full/2/6/e49/DC1.

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“…However, sirenomelia is characterized by a single lower extremity, absent sacrum, single umbilical artery, absent or ambiguous external genitalia, absent or imperforate anus, and renal anomalies. There is controversy in the medical literature about whether sirenomelia and caudal dysplasia syndrome are part of the spectrum of the same malformation [1,2].…”

Section: Introductionmentioning

confidence: 99%

Caudal Dysplasia Syndrome and Sirenomelia: Are They Part of a Spectrum?

Bruce

Romaguera

Rodríguez

et al. 2009

Fetal and Pediatric Pathology

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Caudal dysplasia syndrome (CDS) is associated with hypoplastic lower extremities, caudal vertebrae, sacrum, neural tube, and urogenital organs. Sirenomelia is characterized by a single lower extremity, absent sacrum, urogenital anomalies, and imperforate anus. There is controversy in the medical literature about whether sirenomelia and CDS are part of the spectrum of the same malformation. Patients with CDS and sirenomelia were identified from our pathology files from 1991 to 2006. Maternal history, pathologic examination, and radiographs were collected and tabulated. We found 9 cases with CDS and 6 with sirenomelia. Fully 7 of 9 patients with CDS (77.7%) versus none of sirenomelic babies were infants of diabetic mothers. Congenital heart disease was present in 5 patients with CDS (55.5%) and none of the infants with sirenomelia. Of 9 children with CDS 2 (22.2%) had bilateral renal agenesis versus 66% of sirenomelics. Single umbilical artery was found in 33% of cases with CDS and 100% of children with sirenomelia. External genitalia were ambiguous in 2 of 9 patients (22.2%) with CDS and in all patients with sirenomelia. Imperforate anus was found in 10 cases (66.6%) divided as 4 of 9 babies with CDS (44.4%) and all patients with sirenomelia. Three patients with CDS had concomitant maternal diabetes mellitus and chronic hypertension. These babies also had cleft lip and palate. Congenital heart disease was found in 55.5% of cases with CDS and none of the children with sirenomelia. We conclude that although CDS and sirenomelia share many similar features, they are two different entities.

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Caudal regression sequence: vascular origin?

Cited by 15 publications

References 6 publications

Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: A previously unreported association

Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: A previously unreported association

Solitary Intercostal Arterial Trunk

Caudal Dysplasia Syndrome and Sirenomelia: Are They Part of a Spectrum?

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