Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus
dc.contributor.author | Henker, Luan Cleber | |
dc.contributor.author | Lorenzett, Marina Paula | |
dc.contributor.author | Piva, Manoela Marchezan | |
dc.contributor.author | Wronski, Júlia Gabriela | |
dc.contributor.author | de Andrade, Danilo Giorgi Abranches [UNESP] | |
dc.contributor.author | Borges, Alexandre Secorun [UNESP] | |
dc.contributor.author | Driemeier, David | |
dc.contributor.author | Oliveira-Filho, José Paes [UNESP] | |
dc.contributor.author | Pavarini, Saulo Petinatti | |
dc.contributor.institution | Federal University of Rio Grande do Sul | |
dc.contributor.institution | Universidade Estadual Paulista (UNESP) | |
dc.date.accessioned | 2022-04-29T08:40:16Z | |
dc.date.available | 2022-04-29T08:40:16Z | |
dc.date.issued | 2022-05-01 | |
dc.description.abstract | Holoprosencephaly is a central nervous system malformation, characterized by incomplete or total lack of division of prosencephalon hemispheres, which is commonly accompanied by craniofacial malformations. A 9-month-gestation aborted American Quarter Horse fetus was submitted for postmortem examination. The fetus lacked haircoat and had severe facial malformations including marked shortening/absence of the maxillary, incisive and nasal bones, bilateral anophthalmia, and pre-maxillary agenesis. The prosencephalon was small and nearly spherical, represented by a single lobe, with no visible separation between cerebral hemispheres. The olfactory bulbs, piriform lobes, and the optic chiasm were absent. At cross sectioning of the prosencephalon, the inner structures of the brain were completely absent, and replaced by a monoventricle lined by the remaining compressed cortex, and the thalami were fused. Since mutations in the sonic hedgehog (SHH) gene have been associated with human holoprosencephaly, the three coding SHH exons were sequenced using liver DNA of the aborted foal. The obtained SHH sequence was similar to the Equus caballus SHH mRNA sequence deposited in Genbank (XM_023640069.1); therefore, no polymorphism in the coding region of this gene justifying the phenotype was observed. This is the first report of alobar holoprosencephaly in horses. | en |
dc.description.affiliation | Department of Veterinary Pathology Federal University of Rio Grande do Sul, Bento Gançalves Av., Rio Grande do Sul | |
dc.description.affiliation | São Paulo State University (Unesp) School of Veterinary Medicine and Animal Science Department of Veterinary Clinical Science, São Paulo | |
dc.description.affiliationUnesp | São Paulo State University (Unesp) School of Veterinary Medicine and Animal Science Department of Veterinary Clinical Science, São Paulo | |
dc.identifier | http://dx.doi.org/10.1016/j.jevs.2022.103898 | |
dc.identifier.citation | Journal of Equine Veterinary Science, v. 112. | |
dc.identifier.doi | 10.1016/j.jevs.2022.103898 | |
dc.identifier.issn | 0737-0806 | |
dc.identifier.scopus | 2-s2.0-85125571747 | |
dc.identifier.uri | http://hdl.handle.net/11449/230486 | |
dc.language.iso | eng | |
dc.relation.ispartof | Journal of Equine Veterinary Science | |
dc.source | Scopus | |
dc.subject | Central nervous system | |
dc.subject | Horse | |
dc.subject | Malformation | |
dc.subject | SHH gene | |
dc.title | Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus | en |
dc.type | Artigo | |
unesp.author.orcid | 0000-0001-6556-2010[1] |