# Cryptophthalmia, microphthalmia, oronasal malformation, and hydrocephalus in an aborted equine fetus with umbilical torsion in the state of Mato Grosso, Brazil

**Authors:** Daniel Felipe Barrantes Murillo, Gabriela Camillo, Bruna Souza Serrano, Letícia Perri Almeida Luciano, Gabriela Viana Castilho Bichara, Carlos Alberto Chaves Vás, Fernando Henrique Furlan Gouvêa, Pedro Eduardo Brandini Nespoli, Rosa Helena dos Santos Ferraz, Caroline Argenta Pescador

PMC · DOI: 10.1007/s11259-025-11060-9 · Veterinary Research Communications · 2026-02-28

## TL;DR

This paper describes rare facial and brain abnormalities in an aborted horse fetus from Brazil, possibly caused by umbilical cord torsion.

## Contribution

The first use of computer tomography to characterize fetal congenital malformations in equine fetuses is reported.

## Key findings

- Cryptophthalmia, microphthalmia, oronasal malformation, and hydrocephalus were identified in an aborted equine fetus.
- Umbilical cord torsion was associated with compromised maternal-fetal blood flow and fetal malformation.
- The combination of these malformations and umbilical torsion is exceptionally rare in equine fetuses.

## Abstract

Facial abnormalities and brain defects in aborted equine fetuses are rarely reported, and the causes that predispose the occurrence of this condition are difficult to identify. This work reports the morphological and tomographic findings of a case of cryptophthalmia, microphthalmia, oronasal malformation, and hydrocephalus in an aborted equine fetus with umbilical cord torsion in the state of Mato Grosso, Brazil, from a primiparous Quarter Horse female, with 7 months of gestational age. The occurrence of miscarriage was associated with compromised maternal-fetal blood flow due to umbilical cord torsion concomitant with fetal malformation. The congenital defects described in this report occurred sporadically, and it was not possible to determine the cause. The concurrent presentation of congenital malformations and umbilical torsion in equine fetuses is exceptionally rare, and this report includes the first description of the use of computer tomography for the characterization of fetal congenital malformation.

## Linked entities

- **Species:** Equus caballus (taxon 9796)

## Full-text entities

- **Genes:** GRIP1 [NCBI Gene 100058112], FREM2 [NCBI Gene 100062675], FRAS1 [NCBI Gene 100051496]
- **Diseases:** thrombosis (MESH:D013927), scoliosis (MESH:D012600), skull ossification defects (MESH:C563380), perinatal death (MESH:D066087), brain defects (MESH:D001927), nutritional deficiencies (MESH:D044342), maxillofacial deformity (MESH:D008446), aphakia (MESH:D001035), Abortion (MESH:D000026), dilation of the lateral ventricles (MESH:D002311), umbilical cord abnormalities (MESH:C536938), anophthalmia (MESH:D000853), congenital maxillary malformation (MESH:D008439), , craniofacial, and neural congenital defects (MESH:D019465), miscarriage (MESH:D000022), asymmetry (MESH:D005146), Fraser syndrome (MESH:D058497), stillbirth (MESH:D050497), atrophic cerebral cortex (MESH:D054220), malformations (MESH:C564254), equine abortions (MESH:D006734), cerebellar herniation (MESH:D004677), hydrocephalus (MESH:D006849), infectious diseases (MESH:D003141), nervous system (MESH:D009422), congenital anomalies (MESH:D000013), traumatic injuries (MESH:D014947), anencephaly (MESH:D000757), contracted foal syndrome (MESH:C536214), Congenital malformations (OMIM:163000), Congenital facial abnormalities (MESH:C536386), foal syndrome (MESH:D013577), Torsion (MESH:D050723), microphthalmia (MESH:D008850), chromosomal abnormalities (MESH:D002869), craniofacial and cerebral malformations (MESH:D020786), edema (MESH:D004487), atrophied (MESH:D001284), cyclopia (MESH:D016142), Facial abnormalities (MESH:D063647), malformation of the nose and mouth (MESH:D009059), hemorrhage (MESH:D006470), Williams (MESH:D018980), torticollis (MESH:D014103), fetal lesions (MESH:D005315), umbilical cord torsion (MESH:D013086), craniofacial deformations (MESH:D005157)
- **Chemicals:** HE (-), hematoxylin (MESH:D006416), eosin (MESH:D004801), formalin (MESH:D005557)
- **Species:** Mimosa ophthalmocentra (species) [taxon 648426], Homo sapiens (human, species) [taxon 9606], Piper glabratum (species) [taxon 405326], Equus caballus (domestic horse, species) [taxon 9796], Bos taurus (bovine, species) [taxon 9913], Capra hircus (domestic goat, species) [taxon 9925], Mus musculus (house mouse, species) [taxon 10090], Mimosa tenuiflora (species) [taxon 138060]

## Full text

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## Figures

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Source: https://tomesphere.com/paper/PMC12950065