Sirenomelia Associated with VACTERL and VACTERL-H Syndrome

SUMMARY: Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with V...

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Autores principales:	Kitova,Tanya Todorova, Uchikova,Ekaterina Hristova, Uchikov,Peter Angelov, Kitov,Borislav Dimitrov
Lenguaje:	English
Publicado:	Sociedad Chilena de Anatomía 2020
Materias:	VACTERL association VACTERL-H Sirenomelia Embryonic development Genetic study Congenital malformation
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022020000300793
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spelling	oai:scielo:S0717-950220200003007932020-04-07Sirenomelia Associated with VACTERL and VACTERL-H SyndromeKitova,Tanya TodorovaUchikova,Ekaterina HristovaUchikov,Peter AngelovKitov,Borislav Dimitrov VACTERL association VACTERL-H Sirenomelia Embryonic development Genetic study Congenital malformation SUMMARY: Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.info:eu-repo/semantics/openAccessSociedad Chilena de AnatomíaInternational Journal of Morphology v.38 n.3 20202020-06-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022020000300793en10.4067/S0717-95022020000300793
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	VACTERL association VACTERL-H Sirenomelia Embryonic development Genetic study Congenital malformation
spellingShingle	VACTERL association VACTERL-H Sirenomelia Embryonic development Genetic study Congenital malformation Kitova,Tanya Todorova Uchikova,Ekaterina Hristova Uchikov,Peter Angelov Kitov,Borislav Dimitrov Sirenomelia Associated with VACTERL and VACTERL-H Syndrome
description	SUMMARY: Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.
author	Kitova,Tanya Todorova Uchikova,Ekaterina Hristova Uchikov,Peter Angelov Kitov,Borislav Dimitrov
author_facet	Kitova,Tanya Todorova Uchikova,Ekaterina Hristova Uchikov,Peter Angelov Kitov,Borislav Dimitrov
author_sort	Kitova,Tanya Todorova
title	Sirenomelia Associated with VACTERL and VACTERL-H Syndrome
title_short	Sirenomelia Associated with VACTERL and VACTERL-H Syndrome
title_full	Sirenomelia Associated with VACTERL and VACTERL-H Syndrome
title_fullStr	Sirenomelia Associated with VACTERL and VACTERL-H Syndrome
title_full_unstemmed	Sirenomelia Associated with VACTERL and VACTERL-H Syndrome
title_sort	sirenomelia associated with vacterl and vacterl-h syndrome
publisher	Sociedad Chilena de Anatomía
publishDate	2020
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022020000300793
work_keys_str_mv	AT kitovatanyatodorova sirenomeliaassociatedwithvacterlandvacterlhsyndrome AT uchikovaekaterinahristova sirenomeliaassociatedwithvacterlandvacterlhsyndrome AT uchikovpeterangelov sirenomeliaassociatedwithvacterlandvacterlhsyndrome AT kitovborislavdimitrov sirenomeliaassociatedwithvacterlandvacterlhsyndrome
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Sirenomelia Associated with VACTERL and VACTERL-H Syndrome

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