Possible case of sirenomelia in the Tumaco‐Tolita pottery pre‐Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali‐Colombia

Pachajoa, Harry; Rodríguez, Carlos Armando

doi:10.1002/ajmg.a.32923

Cited by 8 publications

(8 citation statements)

References 4 publications

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“…Recently, a paper has been published describing a pre‐Columbian pottery representing a possible sirenomelia infant of the Tumaco‐Tolita culture dating from 300 BC to 600 AD. This may be proof of the existence of the phenomenon already at that time (Pachajoa and Rodriguez, 2009).…”

Section: Discussionmentioning

confidence: 77%

Sirenomelia: A new type, Showing VACTERL Association with thomas syndrome and a review of literature

Lhuaire

Jestin

Boulagnon-Rombi

et al. 2013

Birth Defects Research

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Sirenomelia or "mermaid syndrome" is a rare congenital anomaly known since antiquity. This congenital anomaly is defined as a polymalformative syndrome that associates major muscle and skeleton abnormalities (unique lower limbs) with visceral abnormalities (unilateral or bilateral renal agenesis, anomalies of the abdominal vascularisation). This phenotype, typical of sirenomelia syndrome, may be more or less severe. The pathogenic mechanisms of this syndrome are still debated and its etiology remains unknown. We report here a new type of sirenomelia that we observed in a fetus belonging to the collection of the Department of Anatomy of Reims, which led us to perform a comprehensive review of the literature on the subject: this type has never been reported and cannot be classified according to the Stocker and Heifetz classification. Moreover, this case also presents a VACTERL association with Thomas syndrome.

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Section: Discussionmentioning

confidence: 77%

Sirenomelia: A new type, Showing VACTERL Association with thomas syndrome and a review of literature

Lhuaire

Jestin

Boulagnon-Rombi

et al. 2013

Birth Defects Research

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“…Sirenomelia intrigued mankind since the earliest times, as can be seen by a 2000‐year‐old terracotta pottery (Fig. ) of the pre‐Colombian Tumaco‐Tolita culture, which clearly represented a case of sirenomelia (Pachajoa and Rodriguez, ). In the mid‐16th century, the first objective descriptions concerning sirenomelia appeared and were ascribed to Rocheus in 1542 and Palfyn in 1553 (Kampmeier, ).…”

Section: Sirenomeliamentioning

confidence: 99%

Sirenomelia: A Multi‐systemic Polytopic Field Defect with Ongoing Controversies

Kim

Morava

Klein

et al. 2017

Birth Defects Research

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The most impressive phenotypic appearance of sirenomelia is the presence of a 1808-rotated, axially positioned, single lower limb. Associated gastrointestinal and genitourinary anomalies are almost always present. This rare anomaly is still the subject of ongoing controversies concerning its nosology, pathogenesis, and possible genetic etiology. Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis. It is imaginable that different "primary field defects," whether or not genetically based, induce a spectrum of caudal malformations. In the current study, we review the contemporary hypotheses and conceptual approaches regarding the etiology and pathogenesis of sirenomelia, especially in the context of concomitant conditions. To expand on the latter, we included the external and internal dysmorphology of one third trimester sirenomelic fetus from our anatomical museum collection, in which multiple concomitant but discordant anomalies were observed compared with classic sirenomelia, and was diagnosed as VACTERL-H association with sirenomelia. Key words: blastogenesis; caudal dysgenesis; mermaid syndrome; anatomical museum; sirenomelia; teratology; VACTERL; VACTERL-H; VATER IntroductionThe most obvious phenotypic characteristic in sirenomelia (also called: symmelia or mermaid syndrome) is the single axially positioned lower limb. However, sirenomelia can be seen as a (lethal) multi-system condition based on a polytopic field defect with a wide phenotypical variability and frequently observed co-occurring with musculoskeletal, central nervous system, cardiopulmonary and other visceral anomalies, in addition to the almost always present gastrointestinal and genitourinary anomalies (reviewed by Gabriele and Gianpaolo, 2013). Sirenomelia is still the subject of debate, due to its ongoing controversies regarding its etiopathogenesis. Sirenomelia shows a heterogeneous phenotypic variability and overlap with caudal regression syndrome/sacro-coccygeal dysgenesis (Duhamel, 1961;Stocker and Heifetz, 1987;Adra et al., 1994), small pelvic outlet syndrome (Currarino and Weinberg, 1991), VATER/ VACTERL (Young et al., 1986;Sch€ uler and Salzano, 1994;Jain et al., 2002;Moosa et al., 2012), and VACTERL-H associations (Onyeije et al., 1998). There have been several attempts to classify these receptacles of caudal malformations, unfortunately without satisfying results. Clearly, diagnostic overlap exists between these conditions and the interpretation of their etiopathogenetic origin.The purpose of this study is to give an overview of multiple facets of this dysmorphological puzzle and review what is known about the co-occurrence of sirenomelia and other birth defects, in particular those assigned to the VACTERL(-H) spectrum. The existing literature on these conditions is supplemented by one additional case of sirenomelia with ...

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“…Sirenomelia is a rare congenital malformation characterized by a single fused lower limb, its prevalence is estimated at 0.2 per 100,000 birth with different degrees of fusion of the lower extremities [Castilla et al, 2008] and is considered as the extreme form of the anomalous caudal process [Kjaer et al, 2003], and have documented a possible case of sirenomelia in the Colombian pacific coast 2,000 years ago [Pachajoa and Rodriguez, 2011] and the cyclopia is the most severe facial malformation and is almost always seen with the alobar form of holoprosencephaly. As the disturbance leading to cyclopia occurs in early life, severe holoprosencephaly and midline disturbances are inevitable and are direct consequences of the cyclopian state [Liu et al, 1997].…”

Section: To the Editormentioning

confidence: 99%

Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America)

Pachajoa

Isaza

2012

American J of Med Genetics Pt A

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Possible case of sirenomelia in the Tumaco‐Tolita pottery pre‐Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali‐Colombia

Cited by 8 publications

References 4 publications

Sirenomelia: A new type, Showing VACTERL Association with thomas syndrome and a review of literature

Sirenomelia: A new type, Showing VACTERL Association with thomas syndrome and a review of literature

Sirenomelia: A Multi‐systemic Polytopic Field Defect with Ongoing Controversies

Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America)

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