Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus

dc.contributor.authorHenker, Luan Cleber
dc.contributor.authorLorenzett, Marina Paula
dc.contributor.authorPiva, Manoela Marchezan
dc.contributor.authorWronski, Júlia Gabriela
dc.contributor.authorde Andrade, Danilo Giorgi Abranches [UNESP]
dc.contributor.authorBorges, Alexandre Secorun [UNESP]
dc.contributor.authorDriemeier, David
dc.contributor.authorOliveira-Filho, José Paes [UNESP]
dc.contributor.authorPavarini, Saulo Petinatti
dc.contributor.institutionFederal University of Rio Grande do Sul
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)
dc.description.abstractHoloprosencephaly 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.affiliationDepartment of Veterinary Pathology Federal University of Rio Grande do Sul, Bento Gançalves Av., Rio Grande do Sul
dc.description.affiliationSão Paulo State University (Unesp) School of Veterinary Medicine and Animal Science Department of Veterinary Clinical Science, São Paulo
dc.description.affiliationUnespSão Paulo State University (Unesp) School of Veterinary Medicine and Animal Science Department of Veterinary Clinical Science, São Paulo
dc.identifier.citationJournal of Equine Veterinary Science, v. 112.
dc.relation.ispartofJournal of Equine Veterinary Science
dc.subjectCentral nervous system
dc.subjectSHH gene
dc.titleAlobar Holoprosencephaly in an Aborted American Quarter Horse Fetusen