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Animals
Special Issues
Recent Progress in Complex Congenital Defects in Animals
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Recent Progress in Complex Congenital Defects in Animals

A special issue of Animals (ISSN 2076-2615). This special issue belongs to the section "Veterinary Clinical Studies".

Deadline for manuscript submissions: closed (31 August 2024) | Viewed by 5046

Special Issue Editors

Prof. Dr. Nieves Martín-Alguacil

E-Mail Website
Guest Editor
Department of Anatomy and Embryology, Complutense University of Madrid, 28040 Madrid, Spain
Interests: complex congenital defects in domestic animals
Prof. Dr. Luis Avedillo

E-Mail Website
Guest Editor
Department of Anatomy and Embryology, Complutense University of Madrid, 28040 Madrid, Spain
Interests: complex congenital defects in domestic animals

Special Issue Information

Dear Colleagues,

Congenital anomalies may occur during early embryogenesis in cases of genetic abnormalities or as a consequence of various environmental factors. Affected animals most often have only one or two abnormalities, but sometimes animals may also have several unrelated congenital defects. There is not enough information about multiple congenital anomalies in animals, which is why it is important to encourage colleagues to make contributions to this field. There are several circumstances that present challenges for studies, among which is the fact that it is almost impossible or very difficult for clinicians to have a prenatal diagnosis and pregnancy follow-up, since most cases are in the form of sporadic findings lacking a lot of information related to it. This Special Issue seeks to provide new insights into the complex congenital defects due to malformations, deformations and/or disruptive processes in several animal species.

Review and original research articles related to complex congenital malformations in animals are especially welcome.

Prof. Dr. Nieves Martín-Alguacil
Prof. Dr. Luis Avedillo
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Animals is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • complex congenital defects
  • multiple congenital anomalies
  • malformative syndrome
  • malformative spectrum
  • malformative disruptive association

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Published Papers (3 papers)

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Research

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18 pages, 3542 KiB  
Article
A Splice Site Variant in ADAMTS3 Is the Likely Causal Variant for Pulmonary Hypoplasia with Anasarca in Persian/Persian-Cross Sheep
by Shernae A. Woolley, Bethany Hopkins, Mehar S. Khatkar, Ian V. Jerrett, Cali E. Willet, Brendon A. O’Rourke and Imke Tammen
Animals 2024, 14(19), 2811; https://doi.org/10.3390/ani14192811 - 29 Sep 2024
Viewed by 884
Abstract
Pulmonary hypoplasia with anasarca, or hydrops fetalis, is characterized by stillbirth, diffuse oedema, and generalized lymph node hypoplasia. The enlarged fetus frequently causes dystocia. The disease has been reported in cattle and sheep as an inherited condition with a recessive mode of inheritance. [...] Read more.
Pulmonary hypoplasia with anasarca, or hydrops fetalis, is characterized by stillbirth, diffuse oedema, and generalized lymph node hypoplasia. The enlarged fetus frequently causes dystocia. The disease has been reported in cattle and sheep as an inherited condition with a recessive mode of inheritance. This is the first report of the disease in Persian/Persian-cross sheep in Australia. Affected fetuses were reported from three flocks, and a total of eleven affected, eleven obligate carrier, and 188 related Persian/Persian-cross animals were available for analysis, as well as unrelated control animals. SNP genotyping revealed a region of homozygosity in affected animals on ovine chromosome six, which contained the functional candidate gene ADAMTS3. Whole genome sequencing of two affected fetuses and one obligate carrier ewe revealed a single nucleotide deletion, ENSOARG00000013204:g.87124344delC, located 3 bp downstream from a donor splice site region in the ADAMTS3 gene. Sanger sequencing of cDNA containing this variant further revealed that it is likely to introduce an early splice site in exon 14, resulting in a loss of 6 amino acids at the junction of exon 14 and intron 14/15. A genotyping assay was developed, and the ENSOARG00000013204:g.87124344delC segregated with disease in 209 animals, allowing for effective identification of carrier animals. Full article
(This article belongs to the Special Issue Recent Progress in Complex Congenital Defects in Animals)
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15 pages, 11201 KiB  
Article
Exencephaly–Anencephaly Sequence Associated with Maxillary Brachygnathia, Spinal Defects, and Palatoschisis in a Male Domestic Cat
by Simona Marc, Jelena Savici, Bogdan Sicoe, Oana Maria Boldura, Cristina Paul and Gabriel Otavă
Animals 2023, 13(24), 3882; https://doi.org/10.3390/ani13243882 - 17 Dec 2023
Cited by 1 | Viewed by 2373
Abstract
Anencephaly, a severe neural tube defect characterized by the absence of major parts of the brain and skull, is a rare congenital disorder that has been observed in various species, including cats. Considering the uncommon appearance of anencephaly, this paper aims to present [...] Read more.
Anencephaly, a severe neural tube defect characterized by the absence of major parts of the brain and skull, is a rare congenital disorder that has been observed in various species, including cats. Considering the uncommon appearance of anencephaly, this paper aims to present anencephaly in a stillborn male kitten from an accidental inbreeding using various paraclinical methods. Histological examination of tissue samples from the cranial region, where parts of the skull were absent, revealed the presence of atypical nerve tissue with neurons and glial cells organized in clusters, surrounded by an extracellular matrix and with an abundance of blood vessels, which are large, dilated, and filled with blood, not characteristic of nerve tissue structure. In CT scans, the caudal part of the frontal bone, the fronto-temporal limits, and the parietal bone were observed to be missing. CT also revealed that the dorsal tubercle of the atlas, the dorsal neural arch, and the spinal process of the C2–C7 bones were missing. In conclusion, the kitten was affected by multiple congenital malformations, a combination of exencephaly–anencephaly, maxillary brachygnathism, closed cranial spina bifida at the level of cervical vertebrae, kyphoscoliosis, palatoschisis, and partial intestinal atresia. The importance of employing imaging techniques cannot be overstated when it comes to the accurate diagnosis of neural tube defects. Full article
(This article belongs to the Special Issue Recent Progress in Complex Congenital Defects in Animals)
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8 pages, 6949 KiB  
Case Report
Complete Thoracic Ectopia Cordis in Two Lambs
by Liz de Albuquerque Cerqueira, Isabel Luana de Mâcedo, Davi Emanuel Ribeiro de Sousa, Haiane Arruda Luz Amorim, José Renato Junqueira Borges, Fábio Henrique Bezerra Ximenes, Antonio Carlos Lopes Câmara and Márcio Botelho de Castro
Animals 2024, 14(15), 2213; https://doi.org/10.3390/ani14152213 - 30 Jul 2024
Viewed by 1120
Abstract
Cardiac congenital defects related to inheritance and teratogenesis have been reported in veterinary species and humans worldwide. Among these, ectopia cordis (EC), characterized by an externalized heart through a cleft, is extremely rare in sheep. This report presents the diagnostic features of two [...] Read more.
Cardiac congenital defects related to inheritance and teratogenesis have been reported in veterinary species and humans worldwide. Among these, ectopia cordis (EC), characterized by an externalized heart through a cleft, is extremely rare in sheep. This report presents the diagnostic features of two cases of complete thoracic EC in newborn lambs. Clinical findings in the lambs, aside from the EC, were unremarkable. Both animals exhibited exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Histologically, the epicardium was thickened by fibrous tissue in both lambs, with one animal also showing marked edema, hemorrhage, and neutrophilic inflammatory infiltration. The prognosis of EC in the lambs of this study was poor, with fatal outcomes despite attempts at surgical correction. Full article
(This article belongs to the Special Issue Recent Progress in Complex Congenital Defects in Animals)
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