Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome

Kaygusuz, Ecmel; Eken, Meryem; Sivrikoz, Oya Nermin; Cetiner, Handan

doi:10.3109/14767058.2015.1026254

Cited by 23 publications

(26 citation statements)

References 33 publications

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“…Caudal dysgenesis is hypothesized to arise from a primary deficiency of caudal mesoderm (Duhamel, ; Alles and Sulik, ). This theory is supported by many authors (e.g., Duesterhoeft et al, ; Charlier et al, ; Thottungal et al, ; Gerard et al, ; Seidahmed et al, ; Moosa et al, ; Das et al, ; Lhuaire et al, ; Kaygusuz et al, ). Dias and Walker () suggested that a teratogenic event occurred during gastrulation that interfered with the formation of the notochord, resulting in abnormally developed caudal structures and concomitant neural tube defects.…”

Section: Sirenomelia and Its Overlap With Caudal Dysgenesismentioning

confidence: 99%

“…Due to lack of knowledge about the exact etiology and the clinical heterogeneity of sirenomelia regarding concomitant disorders, there are currently many hypotheses concerning its pathogenesis (reviewed by Valenzano et al, ; Garrido‐Allepuz et al, ; Arvind Athavale, ; Gabriele and Gianpaolo, ; Kaygusuz et al, ). Below, we will describe the most cited ones and try to give an overview of the many existing hypotheses.…”

Section: Overview Of Etiopathogenetic Mechanismsmentioning

confidence: 99%

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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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Section: Sirenomelia and Its Overlap With Caudal Dysgenesismentioning

confidence: 99%

Section: Overview Of Etiopathogenetic Mechanismsmentioning

confidence: 99%

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

Kim

Morava

Klein

et al. 2017

Birth Defects Research

View full text Add to dashboard Cite

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“…Its prevalence has been reported to be 1/600,000-1,000,000 [ 2 ]. Although the mechanism underlying sirenomelia is still unknown, maternal diabetes mellitus, genetic predisposition, vascular hypoperfusion and exposure to teratogenic agents are among probable factors [ 3 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

“…Most of the gastrointestinal system anomalies described are rectal atresia, blind end colon, imperforate anus, esophagus atresia and omphalocele. Less commonly, pulmonary defects such as lung hypoplasia, diaphragmatic hernia and cardiac defects have been reported [ 3 - 5 ].…”

Section: Introductionmentioning

confidence: 99%

Sirenomelia associated with hypoplastic left heart in a newborn

Turgut

Оздемир

Gokce

et al. 2017

Balkan Journal of Medical Genetics

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Sirenomelia, also known as “mermaid malformation/syndrome,” is a rare, serious congenital anomaly characterized by variable degrees of fusion of the lower limbs and associated with severe malformations of vertebral, genitourinary, cardiovascular system and single umbilical artery. The first pregnancy of a 25-year-old woman resulted in one twin born by Cesarian section at 32 weeks’ gestation, who was referred to our hospital with cyanosis, a congenital anomaly and respiratory distress. On physical examination, there was no urogenital region and anal fissure and gender was indeterminate. The arms were in adduction and wrist in flexion position with four fingers on the right hand and two fingers on the left hand. There was a single lower extremity with a webbed single foot and two toes consistent with sirenomelia type IV radiologically. Abdominal ultrasonography showed urogenital system agenesis and echocardiography detected hypoplastic left heart. However, the patient died 4 hours after birth. The other twin was followed for 1 week for nutrition and respiratory support and was then discharged without any problems.

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“…Wax models showing sirenomelia from the "Luigi Cattaneo" Museum of Anatomical Waxes of the University of Bologna. Photo from Rossella Gelsi's private collection.accepted hypothesis postulates a primary vascular defect leaving the caudal part of the embryo hypoperfused(Isik et al 2015, Garrido-Allepuz et al 2011.…”

mentioning

confidence: 99%

The Mermaid Models of the Bologna Wax Collection

Petti¹,

Gelsi²,

Ruggeri³

et al. 2015

HAPS ED

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Learning Muscle Anatomy Using Clay Model Building • Amyloid beta as a Biomarker for Alzheimer's Disease • Comorbidity of Multiple Sclerosis and Depression • Novel strategies for Overcoming Vancomycin Resistance in S. aureus • The Mermaid Models of the Bologna Wax Collection • Multimodality in the Higher Learning Classroom • Histopathology Case Studies as a Tool for Teaching Undergraduates • The Human Microbiota • The Cognitive Roles of Graphic Symbols • EDu-Snippets 56 • HAPS EDucator

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Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome

Abstract: Even though the etiology of caudal regression syndrome (CRS) and sirenomelia remains unknown we tend to believe that sirenomelia and CRS might be different entities.

Cited by 23 publications

References 33 publications

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

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

Sirenomelia associated with hypoplastic left heart in a newborn

The Mermaid Models of the Bologna Wax Collection

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