Patterns in multimalformed babies and the question of the relationship between sirenomelia and VACTERL

Schüler, L.; Salzano, Francisco M.

doi:10.1002/ajmg.1320490108

Cited by 31 publications

(18 citation statements)

References 26 publications

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“…There have also been many studies describing the interrelationships between VACTERL, VATER association, Potter sequence, and other manifestations of CD such as CD and sirenomelia Sharpiro, 1988, 1993;Duncan et al, 1991;Alles and Sulik, 1993;Schuler and Salzano, 1994]. Duncan and Sharpiro pointed out that VATER and sirenomelia show the same spectrum of malformations, but with a difference in frequencies between those defects localized in the upper and lower segments of the body.…”

Section: Etiology and Pathogenesismentioning

confidence: 96%

Caudal dysgenesis and sirenomelia‐single centre experience suggests common pathogenic basis

Thottungal¹,

Charles²,

Dickinson³

et al. 2010

American J of Med Genetics Pt A

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Abnormally formed lower limbs with varying degrees of fusion are the major feature of sirenomelia whereas maldeveloped lower limbs without fusion are found in association with caudal dysgenesis (CD). The relationship between these two entities has been a topic of debate for many years. The presence of a single umbilical artery originating from the abdominal aorta was considered a major feature distinguishing sirenomelia from CD. Based on this finding, the vascular steal theory was put forward as the causative mechanism of sirenomelia. CD and sirenomelia were considered to be two entirely different entities with distinct pathogenic mechanisms. However, it is now clear that a single umbilical artery can be found in some patients of CD and normal umbilical arteries in some patients of sirenomelia. The hypothesis of primary deficiency of caudal mesoderm caused by early developmental disruption suggests that sirenomelia and CD are two ends of a spectrum of maldevelopment of caudal mesoderm. In this paper we report on the clinical and pathological features of 16 patients of CD and 9 patients of sirenomelia from our institution and review the literature. This series of cases is notable for the significant association with neural tube defects, refining the renal and urogenital pathology associated with these conditions, and supporting the concept of a continuum of the disease spectrum.

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Section: Etiology and Pathogenesismentioning

confidence: 96%

Caudal dysgenesis and sirenomelia‐single centre experience suggests common pathogenic basis

Thottungal¹,

Charles²,

Dickinson³

et al. 2010

American J of Med Genetics Pt A

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“…For consistency, this association will be referred to as VATERL (R standing for Renal defects and L for preaxial Limb anomalies). Since then, the definition and scope of the VATERL association have been debated [Temtamy and Miller, 1974;Khoury et al, 1983;Ludanyi, 1984, 1985;Czeizel et al, 1988;Czeizel et al, 1994;Evans et al, 1985;Lubinsky, 1985Schuler and Salzano, 1994;Weaver and Mapstone, 1986]. For instance, additional congenital anomalies, such as genital defects, cardiovascular defects (including single umbilical artery), and limb anomalies other than radial-ray defects at times have been included in an expanded definition of the association, and acronyms like VACTERL (with C standing for Cardiovascular anomalies) are often used in the literature.…”

Section: Introductionmentioning

confidence: 98%

The spectrum of congenital anomalies of the VATER association: An international study

Botto¹,

Khoury²,

et al. 1997

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The spectrum of the VATER association has been debated ever since its description more than two decades ago. To assess the spectrum of congenital anomalies associated with VATER while minimizing the distortions due to small samples and referral patterns typical of clinical series, we studied infants with VATER association reported to the combined registry of infants with multiple congenital anomalies from 17 birth defects registries worldwide that are part of the International Clearinghouse for Birth Defects Monitoring Systems (ICB-DMS). Among approximately 10 million infants born from 1983 through 1991, the ICB-DMS registered 2,295 infants with 3 or more of 25 unrelated major congenital anomalies of unknown cause. Of these infants, 286 had the VATER association, defined as at least three of the five VATER anomalies (vertebral defects, anal atresia, esophageal atresia, renal defects, and radial-ray limb deficiency), when we expected 219 (P<0.001). Of these 286 infants, 51 had at least four VATER anomalies, and 8 had all five anomalies. We found that preaxial but not other limb anomalies were significantly associated with any combination of the four nonlimb VATER anomalies (P<0.001). Of the 286 infants with VATER association, 214 (74.8%) had additional defects. Genital defects, cardiovascular anomalies, and small intestinal atresias were positively associated with VATER association (P<0.001). Infants with VATER association that included both renal anomalies and anorectal atresia were significantly more likely to have genital defects. Finally, a subset of infants with VATER association also had defects described in other associations, including diaphragmatic defects, oral clefts, bladder exstrophy, omphalocele, and neural tube defects. These results offer evidence for the specificity of the VATER association, suggest the existence of distinct subsets within the association, and raise the question of a common pathway for patterns of VATER and other types of defects in at least a subset of infants with multiple congenital anomalies.

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“…So imaging studies such as X-rays which show the bony abnormalities and ultrasonography are advised to see for solid organ abnormality. This disorder is universally lethal and hence prenatal diagnosis with imaging studies is very helpful to plan termination of pregnancy [10,11].…”

Section: Discussionmentioning

confidence: 99%

Sirenomelia: A case report

Mahapatra¹,

Ambasta²

2014

IJCRI

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International Journal of Case Reports and Images (IJCRI) is an international, peer reviewed, monthly, open access, online journal, publishing high-quality, articles in all areas of basic medical sciences and clinical specialties.Aim of IJCRI is to encourage the publication of new information by providing a platform for reporting of unique, unusual and rare cases which enhance understanding of disease process, its diagnosis, management and clinico-pathologic correlations.IJCRI publishes Review Articles, Case Series, Case Reports, Case in Images, Clinical Images and Letters to Editor. Website: www.ijcasereportsandimages.comSirenomelia: A case report Swagat Mahapatra, Suruchi Ambasta ABSTRACT Introduction: Sirenomelia is a congenital structural anomaly characterized by abnormal development of the caudal region of the body with varying degrees of fusion of lower limbs. Most of the times, the condition is fatal for the baby. Most babies do not survive even after surgery. Fifty percent of cases are seen as stillbirths, and it is much more common in identical twins. This abnormality was initially confused with caudal regression syndrome, but later was given a new name, i.e., sirenomelia mermaid syndrome. Case Report: We present a case of a 15-year-old boy with partially fused lower limbs. A provisional diagnosis of sirenomelia is made and detailed review and surgery was planned. The boy did not report for further treatment. Conclusion: Very rare disorder with prevalence of 1 in 100,000 live births with a total of 300 cases reported till today in which nine are from India. The precise etiology of sirenomelia was not well understood. Many theories have been proposed but none of these is considered definitive. It is very important to diagnose this condition by ultrasonography so that termination of pregnancy can be carried out.

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Patterns in multimalformed babies and the question of the relationship between sirenomelia and VACTERL

Cited by 31 publications

References 26 publications

Caudal dysgenesis and sirenomelia‐single centre experience suggests common pathogenic basis

Caudal dysgenesis and sirenomelia‐single centre experience suggests common pathogenic basis

The spectrum of congenital anomalies of the VATER association: An international study

Sirenomelia: A case report

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