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

Langer, B.; Stoll, Claude; Nicolau, Roméo; Gasser, Bernard; Schlaeder, G

doi:10.1159/000264284

Cited by 17 publications

(15 citation statements)

References 16 publications

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“…Sirenomelia has been associated with situs anomalies in only two previous reports [Kohler, 1972;Langer et al, 1996]. Langer et al described a sirenomelia of the symelia dipus type, with a situs inversus totalis of the thoracic and abdominal organs.…”

Section: Discussionmentioning

confidence: 99%

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Caudal dysgenesis, sirenomelia, and situs inversus totalis: A primitive defect in blastogenesis

Rougemont

Soglio

Désilets

et al. 2008

American J of Med Genetics Pt A

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Caudal dysgenesis (CD) constitutes a heterogeneous spectrum of congenital caudal anomalies, including varying degrees of agenesis of the vertebral column, as well as anorectal and genitourinary anomalies. Sirenomelia, characterized by a fusion of the lower limbs, could represent the most severe end of this spectrum. The two main debated pathogenic hypotheses are an aberrant vascular supply versus a primary axial mesoderm defect. We present the autopsy findings of two fetuses of non-diabetic mothers, with normal karyotype. Both fetuses presented situs inversus associated with a CD, in one case consisting of sirenomelia, establishing a very rare association profile that might be random. This association also suggests the occurrence of a common pathogenic mechanism, in accordance to recent genetic data, such as displayed in the Kif3A murine mutation phenotype. Some cases of sirenomelia and CD could represent developmental field defects of blastogenesis involving the caudal mesoderm, rather than being related to vascular insufficiency.

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Section: Discussionmentioning

confidence: 99%

“…Situs inversus totalis has been reported in association with CD in only two prior instances, of which one consisted of sirenomelia [Langer et al, 1996;Bohring et al, 1999].…”

Section: Introductionmentioning

confidence: 99%

Caudal dysgenesis, sirenomelia, and situs inversus totalis: A primitive defect in blastogenesis

Rougemont

Soglio

Désilets

et al. 2008

American J of Med Genetics Pt A

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show abstract

“…9 Stevenson et al 10 proposed the role of the persistent vitelline artery, which diverts blood from the abdominal aorta and caudal structures to the placenta, causing all distal visceral anomalies because of a vascular stealing phenomenon. Langer et al 11 have suggested a defect of the blastogenesis after the observation of a case of sirenomelia associated with "situs inversus." A deficit in the formation of the caudal region before the fourth week of gestation has been suggested by Duhamel, 4 who introduced the commonly used term "caudal regression syndrome."…”

Section: Discussionmentioning

confidence: 99%

Multidisciplinary Surgical Approach to a Surviving Infant With Sirenomelia

et al. 2006

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Sirenomelia is an extremely complex and rare malformation with different degrees of lower-extremities fusion associated with gastrointestinal, musculoskeletal, vascular, cardiopulmonary, and central nervous system malformations. In the English literature, there are only 5 reports of infants surviving with this condition. In our case, a 2540-g female infant was born with normal vital signs, no facial dysmorphism, and a complete soft tissue fusion of the lower limbs, from perineum to ankles. Radiologic examinations revealed an intestinal atresia and a single pelvic kidney, with a unique ureter, 2 femurs, 2 tibias, 2 fibulas, and 2 feet (simpus dipus). At 7 months of age, a multidisciplinary surgical team achieved complete separation of the lower limbs, with independent vascular and nerve supplies. At the time of this writing, the infant was 28 months old and had a regular growth curve. Many future reconstructive surgeries have been planned to achieve an acceptable quality of life for this infant.

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“…A deficit in the formation of the caudal region prior to the fourth week of gestation has been suggested by Duhamel [2] and has led to the commonly used term ''Caudal regression syndrome.'' More recently, Langer et al suggested a defect of the blastogenesis following the observation of a case of sirenomelia associated with situs inversus [6].…”

Section: Discussionmentioning

confidence: 99%

Mermaid syndrome: virtually no hope for survival

et al. 2004

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Sirenomelia, also called the mermaid syndrome is a severe malformation involving multiple organs and characterized by partially or completely developed lower extremities fused by the skin. The birth of a ''mermaid'' is very rare (1.2-4.2 cases for 100,000 births); most are stillborn, or die at or shortly after birth. The case of a living female neonate with dipodic simelia (fusion of well-developed legs) is presented. No prenatal diagnosis was made and the newborn had an uneventful neonatal course following Cesarean section delivery. The complex and striking malformation was obvious at birth and further evaluation revealed very poorly functioning kidneys, associated with abnormal anorectum, urogenital tract, and external genitalia, as well as a pelvic malformation. Supportive care was applied because of the poor prognosis and the child died at 7 weeks of age, due to renal failure.

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

Cited by 17 publications

References 16 publications

Caudal dysgenesis, sirenomelia, and situs inversus totalis: A primitive defect in blastogenesis

Caudal dysgenesis, sirenomelia, and situs inversus totalis: A primitive defect in blastogenesis

Multidisciplinary Surgical Approach to a Surviving Infant With Sirenomelia

Mermaid syndrome: virtually no hope for survival

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