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

Birth Defects Research
Lucas L BoerRoelof Jan Oostra

Abstract

The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-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 associatio...Continue Reading

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Citations

Feb 6, 2018·American Journal of Medical Genetics. Part a·Lucas L BoerRoelof-Jan Oostra
Jun 20, 2019·Fetal and Pediatric Pathology·Gabriella FuchsRita Prasad Verma
Feb 15, 2020·Human Mutation·François LecoquierreMarion Gerard
Oct 16, 2019·Indian Journal of Pathology & Microbiology·Pranjali VasishtVanita Jain
Nov 3, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Angela E Lin, Mitcheka Jalali
Nov 8, 2020·Children·Ranjit I Kylat, Mohammad Bader
Feb 4, 2021·Clinical Anatomy : Official Journal of the American Association of Clinical Anatomists & the British Association of Clinical Anatomists·Lucas L BoerRoelof-Jan Oostra
Apr 28, 2021·Journal of Medical Case Reports·Asiyeh ShojaeeMansoor Salehi
Jul 2, 2021·Pediatric Research·Renata H BenjaminA J Agopian

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