Sirenomelia and anencephaly

Rodrı́guez, José Ignacio; Palacios, José; Razquin, Socorro

doi:10.1002/ajmg.1320390107

Cited by 27 publications

(16 citation statements)

References 9 publications

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“…There are reports of sirenomelia associated with various central nervous system anomalies including anencephaly and holoprosencephaly with a prevalence of about 10% [Rodriguez et al, 1991;Chen et al, 1997]. In our study, three out of nine patients of sirenomelia had anencephaly/exencephaly.…”

Section: Etiology and Pathogenesismentioning

confidence: 57%

“…There are also reports of CD with a single aberrant umbilical artery [Duesterhoeft et al, 2007] and sirenomelia with normal umbilical arteries [Heifetz, 1984;Opitz et al, 2002] refuting the argument that the aberrant SUA is unique to sirenomelia. Furthermore, overlap of both CD and sirenomelia with other malformations such as the VATER/VACTERL complex, anencephaly, and holoprosencephaly has been noted by many authors [Duncan and Sharpiro, 1988;Rodriguez et al, 1991;Alles and Sulik, 1993;Chen et al, 1997]. The vascular steal theory fails to explain these associations.…”

Section: Introductionmentioning

confidence: 91%

See 1 more Smart Citation

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: 57%

Section: Introductionmentioning

confidence: 91%

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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“…In these types, the prenatal diagnosis was facilitated by the importance of the merg er. Table 1 shows that, for these latter types, the fetuses were lacking either the femur [3,5,6,9,[11][12][13], the fibulae [4,7,8,13], or the feet [3,6,8,12], The 5 remaining cases [3,10] shown in table 1 were of unipus and dipus type. For these types, prenatal diagnosis was rendered more difficult by the discreteness of the malformations.…”

Section: Discussionmentioning

confidence: 99%

Sirenomelia and Situs inversus: Case Report and Review of the Literature

Langer¹,

Stoll²,

Nicolau³

et al. 1996

Fetal Diagn Ther

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We report a case of sirenomelia of the symelia dipus type which is associated with complete situs inversus. Sirenomelia is difficult to diagnose prenatally because of a frequently associated oligohydramnios. Symelia dipus type adds to the difficulty of the diagnosis, since the bones of the thighs and legs are fully formed. In fact, a close examination of the cases of sirenomelia previously reported in the literature shows that a prenatal diagnosis was achieved only when the oligohydramnios was no more than moderate and/or the associated malformation was of apus or unipus type. We propose a systematic amnioinfusion when one suspects symelia unipus type. Finally, the pathogenesis of sirenomelia is discussed, as the presence of a complete situs inversus in the case reported here could illuminate the debate concerning the origin of the malformation.

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“…4 This sequence is known to be associated with noncontiguous anomalies, such as CNS defect and radial dysplasia, which do not lie in the same field. 7,8,9,10 On seeing this case, it can be attributed that during pregnancy every woman should take full precaution during pregnancy regarding drugs, diet, regular exercise, etc. so that the complications or anomalies can be avoided.…”

Section: Radiological Examinationmentioning

confidence: 97%

Sirenomelia: A Case Report

Wankhede¹

2016

jemds

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The incidence of Sirenomelia is thought to be about 1 in 65,000 live births (Oxford Medical database, Dysmorphology). In Sirenomelia, lower limbs are fused together. Common associated malformations include absent genitalia, imperforate anus, lumbosacral vertebral pelvic abnormalities and renal agenesis. Sirenomelia with craniorachischisis totalis (CT) is a rare fetal malformation, only six cases have been reported in English literature (1-5) and none yet from Asia. Our case is of a 26 weeks fetus born to a 20-year-old primi mother and 24-year-old father. It was a lower category Hindu couple. Mother was anemic and was undergoing treatment for anemia. On USG examination of mother showed a single line fetus of 26 weeks placental calcification, marked oligohydramnios. The fetus weighs 250 grams of unidentifiable sex on external examination. There is absence of pubis, definite buttocks and single fused lower limb ending in a bifid foot with 5 toes. X-rays show no skeletal abnormality or absence of bones. Study of internal structures will be discussed later on.

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Sirenomelia and anencephaly

Cited by 27 publications

References 9 publications

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

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

Sirenomelia and Situs inversus: Case Report and Review of the Literature

Sirenomelia: A Case Report

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