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9 pages, 1645 KiB

Open AccessArticle

A Heterozygous Missense Variant in MAP2K2 in a Stillborn Romagnola Calf with Skeletal-Cardio-Enteric Dysplasia

by Joana G. P. Jacinto, Irene M. Häfliger, Arcangelo Gentile and Cord Drögemüller

Animals 2021, 11(7), 1931; https://doi.org/10.3390/ani11071931 - 29 Jun 2021

Cited by 2 | Viewed by 3284

RASopathies are a group of developmental disorders caused by dominant mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) cell signaling pathway. The goal of this study was to characterize the pathological phenotype of a Romagnola stillborn calf with skeletal-cardio-enteric [...] Read more.

RASopathies are a group of developmental disorders caused by dominant mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) cell signaling pathway. The goal of this study was to characterize the pathological phenotype of a Romagnola stillborn calf with skeletal-cardio-enteric dysplasia and to identify a genetic cause by whole-genome sequencing (WGS). The calf showed reduced fetal growth, a short-spine, a long and narrow face, cardiac defects and heterotopy of the spiral colon. Genetic analysis revealed a private heterozygous missense variant in MAP2K2:p.Arg179Trp, located in the protein kinase domain in the calf, and not found in more than 4500 control genomes including its sire. The identified variant affecting a conserved residue was predicted to be deleterious and most likely occurred de novo. This represents the first example of a dominant acting, and most likely pathogenic, variant in MAP2K2 in domestic animals, thereby providing the first MAP2K2-related large animal model, especially in respect to the enteric malformation. In addition, this study demonstrates the utility of WGS-based precise diagnostics for understanding sporadic congenital syndromic anomalies in cattle and the general utility of continuous surveillance for rare hereditary defects in cattle. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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14 pages, 2814 KiB

Open AccessArticle

Perosomus Elumbis in Piglets: Pathological, Radiological and Cytogenetic Findings

by Giuseppe Piegari, Emanuele D’Anza, Dario Costanza, Francesco Prisco, Leonardo Meomartino, Ilaria d’Aquino, Sara Albarella, Orlando Paciello and Francesca Ciotola

Animals 2021, 11(4), 1132; https://doi.org/10.3390/ani11041132 - 15 Apr 2021

Cited by 4 | Viewed by 2593

Abstract

Perosomus elumbis (PE) is a rare congenital condition characterized by agenesis of the lumbar, sacral and coccygeal vertebrae. Perosomus elumbis has rarely been reported in literature as morphological description of singles or few cases. Here we report the first extensive description of eight [...] Read more.

Perosomus elumbis (PE) is a rare congenital condition characterized by agenesis of the lumbar, sacral and coccygeal vertebrae. Perosomus elumbis has rarely been reported in literature as morphological description of singles or few cases. Here we report the first extensive description of eight cases of PE detected in two consecutive litters from the same parents of Casertana pig breed. In August 2018, eight piglets were investigated for multiple malformations. All malformed animals, but one, died in the first day of life. The survivor piglet died at 23 days of age. Pathological, radiological and cytogenetic examination was performed. Furthermore, a farm epidemiological investigation was carried out to investigate the percentage of piglets born dead or with malformations in 2018. The radiological and pathological exams showed skeletal abnormalities at the spinal cord level and visceral malformations. Cytogenetic investigations showed a normal chromosome arrangement. Finally, epidemiological investigation revealed a low prevalence of malformations in newborn pigs, equal to 0.5% of the total birth rate of the farm. Our findings report the first extensive description of PE cases in pigs and suggest an underestimation of this malformation in veterinary medicine. Our findings also suggest a specific genetic etiological basis as cause of PE in pigs and exclude chromosomal abnormalities. Further studies will be performed to confirm this hypothesis. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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12 pages, 2983 KiB

Open AccessArticle

Four Unusual Cases of Congenital Forelimb Malformations in Dogs

by Simona Di Pietro, Giuseppe Santi Rapisarda, Luca Cicero, Vito Angileri, Simona Morabito, Giovanni Cassata and Francesco Macrì

Animals 2021, 11(3), 813; https://doi.org/10.3390/ani11030813 - 14 Mar 2021

Cited by 2 | Viewed by 7978

Abstract

Four dogs were presented with thoracic limb deformity. After clinical and radiographic examinations, a diagnosis of congenital malformations was performed for each of them. In one case, a deformity involving both the radial and ulnar side of the distal limb was observed. Based [...] Read more.

Four dogs were presented with thoracic limb deformity. After clinical and radiographic examinations, a diagnosis of congenital malformations was performed for each of them. In one case, a deformity involving both the radial and ulnar side of the distal limb was observed. Based on clinical and radiological evaluations, a diagnosis of postaxial terminal longitudinal ulnar hemimelia was performed. The term ectrodactyly was used to refer different malformations characterized by skin and soft tissue separation of the distal forelimb observed in two dogs. Simple complete uncomplicated syndactyly of the right forelimb, and complex incomplete uncomplicated syndactyly of the left forelimb were diagnosed in the fourth case. To the authors’ knowledge, ectrodactyly and simple complete uncomplicated syndactyly are very uncommon anomalies in companion animals and have been rarely documented. Moreover, postaxial terminal longitudinal ulnar hemimelia has still not been reported in dogs. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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12 pages, 7639 KiB

Open AccessFeature PaperArticle

X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA

by Donal O’Toole, Irene M. Häfliger, Fabienne Leuthard, Brant Schumaker, Lynn Steadman, Brian Murphy, Cord Drögemüller and Tosso Leeb

Animals 2021, 11(3), 657; https://doi.org/10.3390/ani11030657 - 02 Mar 2021

Cited by 6 | Viewed by 3166

Abstract

X-linked hypohidrotic ectodermal dysplasia-1 (ECTD1) in people results in a spectrum of abnormalities, most importantly hypotrichosis, anodontia/oligodontia, and absent or defective ectodermally derived glands. Five Red Angus-Simmental calves born over a 6-year period demonstrated severe hypotrichosis and were diagnosed as affected with ECTD1-like [...] Read more.

X-linked hypohidrotic ectodermal dysplasia-1 (ECTD1) in people results in a spectrum of abnormalities, most importantly hypotrichosis, anodontia/oligodontia, and absent or defective ectodermally derived glands. Five Red Angus-Simmental calves born over a 6-year period demonstrated severe hypotrichosis and were diagnosed as affected with ECTD1-like syndrome. Two died of severe pneumonia within a week of birth. The skin of three affected calves revealed a predominance of histologically unremarkable small-caliber hair follicles. Larger follicles (>50 µm) containing medullated hairs (including guard and tactile hairs) were largely restricted to the muzzle, chin, tail, eyelids, tragus and distal portions of the limbs and tail. The mean histological density of hair follicles in flank skin of two affected calves was slightly greater than that in two unaffected calves. One affected calf was examined postmortem at 10 days of age to better characterize systemic lesions. Nasolabial, intranasal and tracheobronchial mucosal glands were absent, whereas olfactory glands were unaffected. Mandibular incisor teeth were absent. Premolar teeth were unerupted and widely spaced. Other than oligodontia, histological changes in teeth were modest, featuring multifocal disorganization of ameloblasts, new bone formation in dental alveoli, and small aggregates of osteodentin and cementum at the margins of the enamel organ. A 52,780 base pair deletion spanning six out of eight coding exons of EDA and all of AWAT2 was identified. Partial deletion of the EDA gene is the presumed basis for the reported X-chromosomal recessive inherited genodermatosis. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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12 pages, 2624 KiB

Open AccessArticle

Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis

by Joana G. P. Jacinto, Irene M. Häfliger, Nicole Borel, Patrik Zanolari, Cord Drögemüller and Inês M. B. Veiga

Animals 2021, 11(3), 624; https://doi.org/10.3390/ani11030624 - 26 Feb 2021

Cited by 3 | Viewed by 3723

Abstract

Bovine juvenile angiomatosis (BJA) comprises a group of single or multiple proliferative vascular anomalies in the skin and viscera of affected calves. The purpose of this study was to characterize the clinicopathological phenotype of a 1.5-month-old Simmental calf with multiple cutaneous, subcutaneous, and [...] Read more.

Bovine juvenile angiomatosis (BJA) comprises a group of single or multiple proliferative vascular anomalies in the skin and viscera of affected calves. The purpose of this study was to characterize the clinicopathological phenotype of a 1.5-month-old Simmental calf with multiple cutaneous, subcutaneous, and visceral vascular hamartomas, which were compatible with a generalized form of BJA, and to identify genetic cause for this phenotype by whole-genome sequencing (WGS). The calf was referred to the clinics as a result of its failure to thrive and the presence of multiple cutaneous and subcutaneous nodules, some of which bled abundantly following spontaneous rupture. Gross pathology revealed similar lesions at the inner thoracic wall, diaphragm, mediastinum, pericardium, inner abdominal wall, and mesentery. Histologically, variably sized cavities lined by a single layer of plump cells and supported by a loose stroma with occasional acute hemorrhage were observed. Determined by immunochemistry, the plump cells lining the cavities displayed a strong cytoplasmic signal for PECAM-1, von Willebrand factor, and vimentin. WGS revealed six private protein-changing variants affecting different genes present in the calf and absent in more than 4500 control genomes. Assuming a spontaneous de novo mutation event, one of the identified variants found in the PREX1, UBE3B, PCDHGA2, and ZSWIM6 genes may represent a possible candidate pathogenic variant for this rare form of vascular malformation. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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8 pages, 1362 KiB

Open AccessArticle

A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type II

by Joana G. P. Jacinto, Irene M. Häfliger, Fintan J. McEvoy, Cord Drögemüller and Jørgen S. Agerholm

Animals 2021, 11(2), 561; https://doi.org/10.3390/ani11020561 - 20 Feb 2021

Cited by 2 | Viewed by 3335

Abstract

Osteogenesis imperfecta (OI) type II is a genetic connective tissue disorder characterized by bone fragility, severe skeletal deformities and shortened limbs. OI usually causes perinatal death of affected individuals. OI type II diagnosis in humans is established by the identification of heterozygous mutations [...] Read more.

Osteogenesis imperfecta (OI) type II is a genetic connective tissue disorder characterized by bone fragility, severe skeletal deformities and shortened limbs. OI usually causes perinatal death of affected individuals. OI type II diagnosis in humans is established by the identification of heterozygous mutations in genes coding for collagens. The purpose of this study was to characterize the pathological phenotype of an OI type II-affected neonatal Holstein calf and to identify the causative genetic variant by whole-genome sequencing (WGS). The calf had acute as well as intrauterine fractures, abnormally shaped long bones and localized arthrogryposis. Genetic analysis revealed a private heterozygous missense variant in COL1A1 (c.3917T>A) located in the fibrillar collagen NC1 domain (p.Val1306Glu) that most likely occurred de novo. This confirmed the diagnosis of OI type II and represents the first report of a pathogenic variant in the fibrillar collagen NC domain of COL1A1 associated to OI type II in domestic animals. Furthermore, this study highlights the utility of WGS-based precise diagnostics for understanding congenital disorders in cattle and the need for continued surveillance for rare lethal genetic disorders in cattle. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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11 pages, 9009 KiB

Open AccessArticle

A Disorder of Sex Development in a Holstein–Friesian Heifer with a Rare Mosaicism (60,XX/90,XXY): A Genetic, Anatomical, and Histological Study

by Izabela Szczerbal, Marcin Komosa, Joanna Nowacka-Woszuk, Tomasz Uzar, Marek Houszka, Jerzy Semrau, Magdalena Musial, Michal Barczykowski, Anna Lukomska and Marek Switonski

Animals 2021, 11(2), 285; https://doi.org/10.3390/ani11020285 - 23 Jan 2021

Cited by 5 | Viewed by 3021

Abstract

In this study, we describe an eighteen-month-old Holstein–Friesian heifer with a deformed vulva, located abdominally. The heifer showed typical signs of estrus. A comprehensive anatomical and histopathological examination revealed a blind-ended vagina and an additional section of urethra, which became a part of [...] Read more.

In this study, we describe an eighteen-month-old Holstein–Friesian heifer with a deformed vulva, located abdominally. The heifer showed typical signs of estrus. A comprehensive anatomical and histopathological examination revealed a blind-ended vagina and an additional section of urethra, which became a part of the shortened penis. Cytogenetic analysis showed the presence of two cell lines: 60,XX and 90,XXY. The frequency of the triploid cell line was low (3%) in leukocytes and elevated (35%) in fibroblasts. The molecular detection of Y-linked genes (SRY and AMELY) in the blood, skin, hair follicles, and buccal epithelial cells confirmed the presence of a cell line carrying the Y chromosome. Genotyping of 16 microsatellite markers in DNA isolated from hair follicles and fibroblast culture showed the presence of one (homozygous) or two variants (heterozygous) at all the studied loci, and allowed chimerism to be excluded. We concluded that the heifer had diploid/triploid (60,XX/90,XXY) mosaicism. To our knowledge, this is only the fifth such case to be reported worldwide in this species. Since cytogenetic studies are routinely performed on in vitro cultured leukocytes, we suspect that the prevalence of this chromosome abnormality is underestimated, as it is known from published reports that the frequency of the triploid cell line is usually very low in leukocytes. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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11 pages, 1703 KiB

Open AccessArticle

A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome

by Joana G. P. Jacinto, Irene M. Häfliger, Inês M. B. Veiga, Anna Letko, Cinzia Benazzi, Marilena Bolcato and Cord Drögemüller

Animals 2020, 10(11), 2002; https://doi.org/10.3390/ani10112002 - 30 Oct 2020

Cited by 7 | Viewed by 3967

Abstract

Classical Ehlers–Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by variable degrees of skin hyperextensibility and fragility, atrophic scarring, and generalized joint hypermobility. The purpose of this study was to characterize the clinicopathological phenotype of a cEDS-affected Holstein calf and to [...] Read more.

Classical Ehlers–Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by variable degrees of skin hyperextensibility and fragility, atrophic scarring, and generalized joint hypermobility. The purpose of this study was to characterize the clinicopathological phenotype of a cEDS-affected Holstein calf and to identify the causative genetic variant associated with the disorder by whole-genome sequencing (WGS). A 3-day-old female Holstein calf was referred because of easily induced skin detachment and hyperextensibility in the neck. A complete clinical investigation was performed in the calf, dam, and maternal-grandmother. The calf and dam showed hyperextensibility of the neck skin and atrophic scarring; additionally, the calf presented skin fragility. Moreover, the histopathology of biopsies from the calf and its dam showed that the collagen bundles in affected skin areas were wavy, short, thin, and surrounded by edema and moderate to severe acute hemorrhages. Genetic analysis revealed a private heterozygous missense variant in COL5A2 (c.2366G>T; p.Gly789Val) that was present only in the calf and dam. This confirmed the diagnosis of cEDS and represents the first report of a causal variant for cEDS in cattle and the first COL5A2-related large animal model. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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13 pages, 2031 KiB

Open AccessArticle

Analysis of XX SRY-Negative Sex Reversal Dogs

by Sara Albarella, Lisa De Lorenzi, Elena Rossi, Francesco Prisco, Marita Georgia Riccardi, Brunella Restucci, Francesca Ciotola and Pietro Parma

Animals 2020, 10(9), 1667; https://doi.org/10.3390/ani10091667 - 16 Sep 2020

Cited by 9 | Viewed by 76663

Abstract

Impaired fertility associated with disorders of sex development (DSDs) due to genetic causes in dogs are more and more frequently reported. Affected dogs are usually of specific breeds thus representing a cause of economic losses for breeders. The aim of this research is [...] Read more.

Impaired fertility associated with disorders of sex development (DSDs) due to genetic causes in dogs are more and more frequently reported. Affected dogs are usually of specific breeds thus representing a cause of economic losses for breeders. The aim of this research is to report the clinical, cytogenetic and molecular genetic findings of four XX SRY-negative DSD dog cases. All the subjects showed a female aspect and the presence of an enlarged clitoris with a penis bone. Morphopathological analyses performed in three of the four cases showed the presence of testes in two cases and ovotestis in another. Conventional and R-banded cytogenetic techniques were applied showing that no chromosome abnormalities were involved in these DSDs. CGH arrays show the presence of 11 copy number variations (CNVs), one of which is a duplication of 458 Kb comprising the genomic region between base 17,503,928 and base 17,962,221 of chromosome 9 (CanFam3 genome assembly). This CNV, confirmed also by qPCR, includes the promoter region of SOX9 gene and could explain the observed phenotype. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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7 pages, 2948 KiB

Open AccessCase Report

Congenital Suborbital Undifferentiated Sarcoma in a Crossbred Calf

by Joana G. P. Jacinto, Marilena Bolcato, Arcangelo Gentile, Cinzia Benazzi and Luisa Vera Muscatello

Animals 2021, 11(2), 534; https://doi.org/10.3390/ani11020534 - 18 Feb 2021

Cited by 1 | Viewed by 2005

Abstract

Undifferentiated sarcomas are rare conditions that represent a group of unclassified sarcomas. The purpose of this study is to describe the clinical and pathological features of a calf showing a congenital infiltrating suborbital mass suggestive of undifferentiated sarcoma. The animal was referred because [...] Read more.

Undifferentiated sarcomas are rare conditions that represent a group of unclassified sarcomas. The purpose of this study is to describe the clinical and pathological features of a calf showing a congenital infiltrating suborbital mass suggestive of undifferentiated sarcoma. The animal was referred because of respiratory distress and the presence of a right suborbital mass since birth. At ultrasonography, the mass displayed an irregular shape with multiple cavities. Radiographs revealed a diffuse, poorly defined mass with different densities overlying the bony structures of the skull. Endoscopy showed a co-involution of the mass in the right side with extension into the nasopharynx. Post-mortem examination showed a round, poorly demarcated neoplasia infiltrating the nasal turbinate and displacing the nasal septum. Histologically, the subcutis was expanded by lobules and bundles of densely cellular neoplastic spindle cells. The neoplasm infiltrated the underlying muscles, bone and the right retromandibular lymph node. The neoplastic cells had a diffuse intense cytoplasmic immunexpression to vimentin, and were negative to cytokeratin AE1/AE3, desmin, MUM1, IBA1, melan A, chromogranin and synaptophysin. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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7 pages, 2570 KiB

Open AccessCase Report

Double-Outlet Right Ventricle in a Chianina Calf

by Domenico Caivano, Maria Chiara Marchesi, Piero Boni, Noemi Venanzi, Giovanni Angeli, Francesco Porciello and Elvio Lepri

Animals 2021, 11(2), 318; https://doi.org/10.3390/ani11020318 - 27 Jan 2021

Cited by 7 | Viewed by 4183

Abstract

Congenital heart defects have been occasionally reported in cattle and ventricular septal defect represents the most frequently encountered anomaly. The double-outlet right ventricle is a rare congenital ventriculoarterial malformation reported only in certain cattle breeds. We describe this rare and complex congenital cardiac [...] Read more.

Congenital heart defects have been occasionally reported in cattle and ventricular septal defect represents the most frequently encountered anomaly. The double-outlet right ventricle is a rare congenital ventriculoarterial malformation reported only in certain cattle breeds. We describe this rare and complex congenital cardiac malformation observed in a 10-day-old male Chianina calf. Clinical examination showed tachycardia, tachypnea, jugular pulses, cyanotic mucous membranes and a right apical systolic murmur. Transthoracic echocardiography revealed severe dilation of the right-sided cardiac chambers with a markedly hypoplastic left ventricle. Both aorta and pulmonary artery leaving the right ventricle in parallel alignment with the tricuspid valve were suggestive of a dual-outlet right ventricle. Interventricular and interatrial septal defects were also visualized. Post-mortem examination confirmed the echocardiographic findings. To the authors’ knowledge, a similar complex congenital cardiac malformation has not been reported in calves of the Chianina breed to date. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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12 pages, 4491 KiB

Open AccessCase Report

An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative)

by Vincenzo Peretti, Katiuska Satué, Francesca Ciotola, Santo Cristarella, Massimo De Majo, Vito Biondi, Emanuele D’Anza, Sara Albarella and Marco Quartuccio

Animals 2020, 10(11), 1963; https://doi.org/10.3390/ani10111963 - 25 Oct 2020

Cited by 2 | Viewed by 12027

Abstract

A 3-year-old Arabian mare underwent medical examinations due to the presence of abnormalities of the reproductive apparatus and stallion behavior (nervous temperament, aggressiveness, masculine attitude). During the clinical visit, an anovulvar distance shorter than normal was observed; moreover, vulvar lips were dorsally fused [...] Read more.

A 3-year-old Arabian mare underwent medical examinations due to the presence of abnormalities of the reproductive apparatus and stallion behavior (nervous temperament, aggressiveness, masculine attitude). During the clinical visit, an anovulvar distance shorter than normal was observed; moreover, vulvar lips were dorsally fused except for the lower neckline, showing a blind ending from which a penis-like structure protruded. The ultrasound examination revealed the presence of a cervix and corpus of a uterus, hypoplastic uterine horns, and small gonads with an echogenicity similar to a testis. Blood testosterone levels ranged from 0.4 to 0.6 ng/mL. Cytogenetic analysis showed a normal female karyotype (2n = 64,XX), while PCR amplification of SRY and ZFY genes revealed the absence of a Y chromosome. At necroscopic examination, internal genitalia arising from the genital ridge in the form of masculine type structures were found, while those deriving from the Mullerian ducts were of feminine type. In addition, an infundibular portion of the salpinx at the cranial pole of the gonads was found. This is the first case in equine species of DSD 2n = 64,XX SRY-negative, with the simultaneous presence of male (hypoplastic testicles, epididymal portions, and a penis-like structure) and female (cervix, horn and body of a hypoplastic uterus) genital structures. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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9 pages, 9566 KiB

Open AccessCase Report

Congenital Malformations in a Holstein-Fresian Calf with a Unique Mosaic Karyotype: A Case Report

by Tomasz Uzar, Izabela Szczerbal, Katarzyna Serwanska-Leja, Joanna Nowacka-Woszuk, Maciej Gogulski, Szymon Bugaj, Marek Switonski and Marcin Komosa

Animals 2020, 10(9), 1615; https://doi.org/10.3390/ani10091615 - 10 Sep 2020

Cited by 6 | Viewed by 2653

Abstract

A Holstein-Fresian calf with multiple congenital malformations was subjected postmortem to anatomical and genetic investigation. The calf was small (20 kg), had shortened limbs and was unable to stand up. It lived only 44 days. Detailed anatomical investigation revealed the following features: head [...] Read more.

A Holstein-Fresian calf with multiple congenital malformations was subjected postmortem to anatomical and genetic investigation. The calf was small (20 kg), had shortened limbs and was unable to stand up. It lived only 44 days. Detailed anatomical investigation revealed the following features: head asymmetry, the relocation of the frontal sinus and eye orbits, hypoplastic thymus without neck part, ductus Botalli, unfinished obliteration in umbilical arteries, and a bilateral series of tooth germs in the temporal region. Cytogenetic examination, performed on in vitro cultured fibroblasts, showed a unique mosaic karyotype with a marker chromosome—60,XX[9 2%]/60,XX,+mar[8%], which was for the first time described in cattle. No other chromosome abnormalities indicating chromosome instabilities, like chromatid breaks or gaps were identified, thus teratogenic agent exposure during pregnancy was excluded. The marker chromosome (mar) was small and it was not possible to identify its origin, however, sequential DAPI/C (4’,6-diamidino-2-phenylindole) band staining revealed a large block of constitutive heterochromatin, which is characteristic for centromeric regions of bovine autosomes. We suppose that the identified marker chromosome was a result of somatic deletion in an autosome and its presence could be responsible for the observed developmental malformations. In spite of the topographic distance among the affected organs, we expected a relationship between anatomical abnormalities. To the of our best knowledge, this is the first case of a mosaic karyotype with a cell line carrying a small marker chromosome described in a malformed calf. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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9 pages, 992 KiB

Open AccessCase Report

Multiple Cephalic Malformations in a Calf

by Di Muro G., Cagnotti G., Bellino C., Capucchio M.T., Colombino E. and D’Angelo A.

Animals 2020, 10(9), 1532; https://doi.org/10.3390/ani10091532 - 30 Aug 2020

Cited by 4 | Viewed by 2902

Abstract

Congenital malformations of the central nervous system (CNS) can affect the CNS alone or the CNS and craniofacial structures. Here, we report an unusual and complex congenital cephalic malformation observed in a 3-day-old male crossbreed calf. Clinical examination disclosed a dome-shaped cranial vault, [...] Read more.

Congenital malformations of the central nervous system (CNS) can affect the CNS alone or the CNS and craniofacial structures. Here, we report an unusual and complex congenital cephalic malformation observed in a 3-day-old male crossbreed calf. Clinical examination disclosed a dome-shaped cranial vault, a flat face with a short snout, a median cleft lip, and increased intraorbital distance. The frontal region of the head was remarkable for a fluctuant, sac-like protrusion covered with haired skin. Neurologic findings suggested a multifocal intracranial lesion affecting the prosencephalon and the central vestibular system. While pathological and histopathological findings posited for a presumptive diagnosis of either hydranencephaly or holoprosencephaly associated with multiple congenital facial abnormalities, not all the findings could be definitely attributed to either of the two encephalic malformations alone. To our knowledge, a similar combination of severe congenital abnormalities affecting both the CNS and the craniofacial structures has not been reported in calves to date. Full article

(This article belongs to the Special Issue Congenital Malformation in Domestic Animals)

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