Aprosopia/holoprosencephaly in a stillborn puppy: when the face predicts the brain

Clairton Marcolongo Pereira; Tayná B Silva; Laiz Zaché Roque; Bárbara Barros; Luiz Alexandre Moscon; Ana Lucia Schild; Claudio S L Barros; Leonardo Schüler-Faccini; Lavinia Schuler-Faccini

doi:10.1080/23144599.2021.1897740

Aprosopia/holoprosencephaly in a stillborn puppy: when the face predicts the brain

Int J Vet Sci Med. 2021 Mar 26;9(1):7-10. doi: 10.1080/23144599.2021.1897740.

Authors

Clairton Marcolongo Pereira¹, Tayná B Silva¹, Laiz Zaché Roque¹, Bárbara Barros¹, Luiz Alexandre Moscon¹, Ana Lucia Schild², Claudio S L Barros³, Leonardo Schüler-Faccini⁴, Lavinia Schuler-Faccini⁴

Affiliations

¹ Faculdade de Medicina Veterinária, Centro Universitário do Espírito Santo (UNESC), Colatina, ES, Brazi.
² Laboratório Regional de Diagnóstico, Faculdade de Veterinária, Universidade Federal de Pelotas (UFPel), Capão do Leão, Brazil.
³ Laboratório de Anatomia Patológica, Universidade Federal de Mato Grosso do Sul (UFMS), Campo Grande, MS, Brazil.
⁴ Departamento de Genética, Serviço deGenética Médica Populacional (INAGEMP), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.

Abstract

In a litter of three puppies, one was stillborn and had facial and brain defects. Fusion of the maxilla and mandible and absence of the face were observed. The forebrain (telencephalon and the diencephalon) was reduced in size and fused, and the telencephalic longitudinal fissure, olfactory bulbs, and optic nerves were absent (Figures 6 and 7). Lissencephaly was observed in the telencephalon and cerebellum. A diagnosis of aprosopia/holoprosencephaly was made.

Keywords: Dog; aprosopia; central nervous system; congenital defects; holoprosencephaly.

Grants and funding

This work was supported by Fundação de Amparo à Pesquisa e Inovação do Espírito Santo – FAPES and in part by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES), Brasil-Finance code [001].