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Veterinary research communications2026; 50(3); 178; doi: 10.1007/s11259-025-11060-9

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

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.
Publication Date: 2026-02-28 PubMed ID: 41762325PubMed Central: PMC12950065DOI: 10.1007/s11259-025-11060-9Google Scholar: Lookup
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  • Journal Article

Summary

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Overview

  • This research article describes a rare case of multiple congenital abnormalities in an aborted horse fetus in Brazil, including eye and facial malformations and brain defects, linked to umbilical cord torsion.
  • The study highlights the use of computed tomography (CT) to characterize these fetal malformations, which has not been previously reported in equine fetuses.

Introduction and Background

  • Congenital abnormalities in aborted equine fetuses, especially those involving facial and brain defects, are infrequently documented.
  • The causes of these defects are often difficult to establish due to their sporadic nature and the complexity of developmental factors.
  • Umbilical cord torsion, a condition where the umbilical cord twists, can compromise blood flow between the mare and fetus, potentially leading to miscarriage or fetal abnormalities.

Case Description

  • The fetus studied was at approximately 7 months gestational age, from a primiparous (first-time pregnant) Quarter Horse mare in Mato Grosso, Brazil.
  • Multiple congenital defects were observed, including:
    • Cryptophthalmia: a condition where eyelids fail to separate properly, resulting in a hidden or absent eye.
    • Microphthalmia: abnormally small eyes.
    • Oronasal malformation: abnormalities involving the mouth and nose structures.
    • Hydrocephalus: accumulation of cerebrospinal fluid causing brain enlargement or swelling.
  • Umbilical cord torsion was noted, which presumably led to compromised maternal-fetal blood circulation.

Methods

  • Morphological analysis involved physical examination of the fetus to identify anatomical defects.
  • Computed tomography (CT) was used to obtain detailed cross-sectional images and better characterize the extent and nature of the congenital malformations.
  • The use of CT imaging is novel in this context and offers improved visualization over traditional examination methods.

Findings and Interpretation

  • The fetal congenital defects were severe and complex, affecting critical structures of the head and brain.
  • Umbilical cord torsion likely caused impaired blood supply, which may have contributed to fetal death and miscarriage.
  • These developmental abnormalities occurred sporadically, meaning they were random and not linked to inherited or infectious causes identifiable in this case.
  • The combined presence of umbilical cord torsion and congenital malformations in equine fetuses is very rare, making this case report significant.
  • CT imaging provided valuable diagnostic information that supplemented traditional morphological findings and could be used in future cases to aid diagnosis.

Conclusions and Significance

  • The report adds new knowledge about rare congenital conditions in horses and their potential association with umbilical cord complications.
  • It underscores the challenges in identifying the exact causes of fetal abnormalities when they occur sporadically.
  • The utilization of CT technology represents an important advancement in veterinary fetal pathology diagnosis, improving the ability to describe anatomical defects in detail.
  • The findings may benefit veterinarians and researchers in diagnosing, managing, and understanding equine fetal losses with congenital abnormalities.

Cite This Article

APA
Barrantes Murillo DF, Camillo G, Souza Serrano B, Almeida Luciano LP, Castilho Bichara GV, Chaves Vás CA, Furlan Gouvêa FH, Brandini Nespoli PE, Dos Santos Ferraz RH, Argenta Pescador C. (2026). Cryptophthalmia, microphthalmia, oronasal malformation, and hydrocephalus in an aborted equine fetus with umbilical torsion in the state of Mato Grosso, Brazil. Vet Res Commun, 50(3), 178. https://doi.org/10.1007/s11259-025-11060-9

Publication

ISSN: 1573-7446
NlmUniqueID: 8100520
Country: Switzerland
Language: English
Volume: 50
Issue: 3
PII: 178

Researcher Affiliations

Barrantes Murillo, Daniel Felipe
  • Department of Veterinary Pathobiology, College of Veterinary Medicine, Oklahoma State University, Stillwater, OK, 74078, USA.
Camillo, Gabriela
  • Laboratory of Veterinary Pathology, College of Veterinary Medicine, Federal University of Mato Grosso, Av. Fernando Corrêa da Costa, 2367 - Boa Esperança, Cuiabá, 78060-900, MT, Brazil.
Souza Serrano, Bruna
  • Laboratory of Veterinary Pathology, College of Veterinary Medicine, Federal University of Mato Grosso, Av. Fernando Corrêa da Costa, 2367 - Boa Esperança, Cuiabá, 78060-900, MT, Brazil.
Almeida Luciano, Letícia Perri
  • Laboratory of Veterinary Pathology, College of Veterinary Medicine, Federal University of Mato Grosso, Av. Fernando Corrêa da Costa, 2367 - Boa Esperança, Cuiabá, 78060-900, MT, Brazil.
Castilho Bichara, Gabriela Viana
  • Laboratory of Veterinary Pathology, College of Veterinary Medicine, Federal University of Mato Grosso, Av. Fernando Corrêa da Costa, 2367 - Boa Esperança, Cuiabá, 78060-900, MT, Brazil.
Chaves Vás, Carlos Alberto
  • Laboratory of Veterinary Pathology, College of Veterinary Medicine, Federal University of Mato Grosso, Av. Fernando Corrêa da Costa, 2367 - Boa Esperança, Cuiabá, 78060-900, MT, Brazil.
Furlan Gouvêa, Fernando Henrique
  • Laboratory of Veterinary Pathology, College of Veterinary Medicine, Federal University of Mato Grosso, Av. Fernando Corrêa da Costa, 2367 - Boa Esperança, Cuiabá, 78060-900, MT, Brazil.
Brandini Nespoli, Pedro Eduardo
  • Diagnostic Imaging Sector, College of Veterinary Medicine, Federal University of Mato Grosso, Av. Fernando Corrêa da Costa, 2367 - Boa Esperança, Cuiabá, 78060-900, MT, Brazil.
Dos Santos Ferraz, Rosa Helena
  • Laboratory for Clinical Analysis of Birds and Reptiles, College of Veterinary Medicine, Federal University of Mato Grosso, Av. Fernando Corrêa da Costa, 2367 - Boa Esperança, Cuiabá, 78060-900, MT, Brazil.
Argenta Pescador, Caroline
  • Laboratory of Veterinary Pathology, College of Veterinary Medicine, Federal University of Mato Grosso, Av. Fernando Corrêa da Costa, 2367 - Boa Esperança, Cuiabá, 78060-900, MT, Brazil. carolinepescador@gmail.com.

Conflict of Interest Statement

Declarations. Ethics statement: The authors confirm that the journal’s ethical policies, as noted on the journal’s author guidelines page, have been adhered to. No ethical approval was required as this is a case submitted for routine post-mortem examination. Competing interests: The authors declare no competing interests.

References

This article includes 31 references
  1. Agerholm JS, Pedersen HG, McEvoy FJ, Heegaard S. Bilateral oblique facial clefts, rudimentary eyes and hydrocephalus in an aborted equine foetus. Reprod Domest Anim 52:692–695.
    doi: 10.1111/rda.12962pubmed: 28332242google scholar: lookup
  2. Agerholm JS, Klas E-M, Damborg P. A diagnostic survey of aborted equine fetuses and stillborn premature foals in Denmark. Front Vet Sci 8:740621.
    doi: 10.3389/fvets.2021.740621pmc: PMC8631530pubmed: 34859085google scholar: lookup
  3. Amicis ID, Marruchella G, Mariani C. Cyclopia, cerebral aplasia and hydrocephalus in an equine foetus. Larg Anim Rev 25:251–252.
  4. Bouaoud J, Olivetto M, Testelin S. Fraser syndrome: review of the literature illustrated by a historical adult case. Int J Oral Maxillofac Surg 49:1245–1253.
    doi: 10.1016/j.ijom.2020.01.007pubmed: 31982235google scholar: lookup
  5. Bunton TE. Spontaneous craniofacial malformations and central nervous system defects in an aborted equine foetus. J Comp Pathol 95:131–135.
    doi: 10.1016/0021-9975(85)90086-6pubmed: 3973107google scholar: lookup
  6. Cantón GJ, Navarro MA, Asin J. Equine abortion and stillbirth in california: a review of 1,774 cases received at a diagnostic laboratory, 1990–2022. J Vet Diagn Invest 35:153–162.
    doi: 10.1177/10406387231152788pmc: PMC9999402pubmed: 36744759google scholar: lookup
  7. Crowe MW, Swerczek TW. Equine congenital defects. Am J Vet Res 46:353–358.
    doi: 10.2460/ajvr.1985.46.02.353pubmed: 3994101google scholar: lookup
  8. Dantas AFM, Riet-Correa F, Medeiros RMT. Malformações congênitas Em ruminantes no semiárido do Nordeste Brasileiro. Pesq Vet Bras 30:807–815.
  9. Giles RC, Donahue JM, Hong CB. Causes of abortion, stillbirth, and perinatal death in horses: 3,527 cases (1986–1991). J Am Vet Med Assoc 203:1170–1175.
    doi: 10.2460/javma.1993.203.08.1170pubmed: 8244867google scholar: lookup
  10. Hong CB, Donahue JM, GilesJr. RC. Equine abortion and stillbirth in central Kentucky during 1988 and 1989 foaling seasons. J Vet Diagn Invest 5:560–566.
    doi: 10.1177/104063879300500410pubmed: 8286455google scholar: lookup
  11. Hyttel P, Vajta G. History of embryology. In: Hyttel P, Sinowatz F, Vejlsted M, Betteridge K (eds) Essentials of domestic animal embryology. Saunders Elsevier, Edimburgo, pp 1–13.
  12. Landau-Prat D, Kim DH, Bautista S. Cryptophthalmos: associated syndromes and genetic disorders. Ophthalmic Genet 44:547–552.
    doi: 10.1080/13816810.2023.2237568pubmed: 37493047google scholar: lookup
  13. Laugier C, Foucher N, Sevin C. A 24-Year retrospective study of equine abortion in Normandy (France). J Equine Vet Sci 31:116–123.
  14. Macêdo JTSA, Lucena RB, Giaretta PR. Defeitos congênitos Em Bovinos Da Região central do Rio Grande do Sul. Pesq Vet Bras 31:297–306.
  15. Mandara M, Cantile C, Baroni M, Bernardini. Lesioni malformative. In: Mandara M, Cantile C, Baroni M, Bernardini (eds) Neuropatologia e Neuroimaging, 1 St. Poletto Editore, Milan, pp 176–198.
  16. Marcolongo-Pereira C, Adrien M, de Ladeira L SRL. Abortos Em equinos Na região Sul do Rio Grande do sul: Estudo de 72 Casos. Pesq Vet Bras 32:22–26.
  17. Nunes RCS, Neves SC das, Salustriano FR. The ethanolic extract of Piper glabratum Kunth is teratogenic and interferes with the ossification process of Swiss mice fetuses. Pharmaceuticals (Basel) 16:430.
    pmc: PMC10051201pubmed: 36986529doi: 10.3390/ph16030430google scholar: lookup
  18. Pavarini SP, Sonne L, Antoniassi NAB. Anomalias congênitas Em fetos Bovinos abortados no Sul do Brasil. Pesq Vet Bras 28:149–154.
  19. Pimentel LA, Correa FR, Gardner D. as a cause of malformations in ruminants in the Northeastern Brazilian semiarid rangelands. Vet Pathol 44:928–931.
    doi: 10.1354/vp.44-6-928pubmed: 18039908google scholar: lookup
  20. Platt H. Growth and maturity in the equine fetus. J R Soc Med 71:658–661.
    doi: 10.1177/014107687807100906pmc: PMC1436262pubmed: 712744google scholar: lookup
  21. Riet-Correa F, Medeiros RMT, Schild AL. A review of poisonous plants that cause reproductive failure and malformations in the ruminants of Brazil. J Appl Toxicol 32:245–254.
    doi: 10.1002/jat.1754pubmed: 22147504google scholar: lookup
  22. Roach JM, Foote AK, Smith KC. Incidence and causes of pregnancy loss after day 70 of gestation in thoroughbreds. Equine Vet J 53:996–1003.
    doi: 10.1111/evj.13386pubmed: 33205445google scholar: lookup
  23. Rocha TG, Teixeira LG, Seppa G dos S. Fístulas e outras anomalias congênitas Dos Tratos digestivo e urinário Em Um Potro. Cienc Rural 37:1488–1491.
  24. Roxon CA, Linton JK, Habecker PL. Equine dystocia complicated by fetal congenital anomaly. J Am Vet Med Assoc .
    doi: 10.2460/javma.23.06.0338pubmed: 37619617google scholar: lookup
  25. Schild A. Defeitos congênitos. .
  26. Schild AL, Soares MP, Damé MC. Arthrogryposis in Murrah buffaloes in Southern Brazil. Pesq Vet Bras 23:13–16.
  27. Smith KC, Blunden AS, Whitwell KE. A survey of equine abortion, stillbirth and neonatal death in the UK from 1988 to 1997. Equine Vet J 35:496–501.
    doi: 10.2746/042516403775600578pubmed: 12875329google scholar: lookup
  28. Tudor RA III, Ramirez O Jr, Tate LP, Gerard MP. A congenital malformation of the maxilla of a horse. Vet Radiol Ultrasound 40:353–356.
  29. Whitwell KE. Morphology and pathology of the equine umbilical cord. J Reprod Fertil Suppl 23:599–603.
    pubmed: 1060852
  30. Whitwell KE. Investigations into fetal and neonatal losses in the horse. Vet Clin North Am Large Anim Pract 2:313–332.
    doi: 10.1016/S0196-9846(17)30165-9pubmed: 6262989google scholar: lookup
  31. Williams N. Disorders of horses. In: Njaa B (ed) Kirkbride’s diagnosis of abortion and neonatal loss in animals, 4th edn. Wiley-Blackwell, pp 147–171.

Citations

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