Complex vertebral malformation in a holstein calf: report of a case in the USA.

Complex vertebral malformation (CVM), a familial syndrome of Holstein calves, has been reported in aborted fetuses and in prematurely born, stillborn, and neonatal calves. Affected calves have anomalies in the vertebral column, including hemivertebrae, fused and misshapen vertebrae and ribs, scoliosis, and vertebral synostosis. Concurrent low body weight, symmetrical arthrogryposis, and cardiac anomalies have been documented in affected calves. The syndrome was identified and characterized in Holstein cattle in Denmark; however, a global distribution of this genetic disorder is likely based on identification of common ancestral sires widely used for artificial insemination. This is the first documented case of CVM in a Holstein calf in the USA.     

Complex vertebral malformation in holstein calves.

A recently observed lethal congenital defect of purebred Holstein calves is reported. Eighteen genetically related calves were necropsied. One calf had been aborted on gestation day 159, and the others were delivered between day 250 and day 285. Birth weights were reduced. The defect was characterized by shortening of the cervical and thoracic parts of the vertebral column due to multiple hemivertebrae, fused and misshaped vertebrae, and scoliosis. Symmetrical flexures of the carpal joints and the metacarpophalangeal joint in combination with a slight lateral rotation of the phalanges also were present. Similar low-grade arthrogryposis was present in the posterior limbs. Fifty percent of the calves had heart malformation. Other malformations occurred in a few calves. Complex vertebral malformation (CVM) is proposed as the designation for this defect. A genetic etiology is indicated because cases occurred following breeding between genetically related individuals. Two common ancestors were found; both were former elite sires of US Holstein origin. Because of the widespread international use of semen from sires occurring in the pedigrees of affected calves, CVM is expected to occur in several countries.     

Identification of complex vertebral malformation carriers in Chinese Holstein.

Complex vertebral malformation (CVM) is a monogenic autosomal recessive hereditary defect of Holstein dairy cattle. It is caused by a point mutation from G to T at the nucleotide position 559 in bovine solute carrier family 35, member 3 gene (SLC35A3), which changes the amino acid sequence of uridine 5'-diphosphate-N-acetylglucosamine transporter protein from a valine to a phenylalanine in position 180. The elite U.S. Holstein sire Penstate Ivanhoe Star was identified as the common ancestor of the current CVM carriers. Because his offspring, mainly those of Carlin-M Ivanhoe Bell, were used in many countries, CVM has potentially spread into China. In the present study, using the polymerase chain reaction-single-stranded conformational polymorphism (PCR-SSCP) technique, 10 CVM carriers were found among 68 at-risk Chinese Holstein bulls, and 282 carriers were found among 602 at-risk cows. The results of this study indicate that the CVM gene exists in the Chinese Holstein population.     

Aphakia in a German Holstein calf

Aphakia and further malformations of both eyes were diagnosed in a female German Holstein calf. Besides aphakia of the left eye, the calf exhibited microphthalmia, glaucoma and a hypoplastic uveoscleral tissue. Additional findings in the right eye were buphthalmus and glaucoma. Instead of aphakia, pathohistological and investigations revealed a very small (microphakia) and luxated lens. Neither the clinical nor the pathological examination revealed further malformations of other organs. A BVD infection could be excluded as cause for the ocular malformations observed. A deficiency or excess of vitamine A was unlikely because this would have also applied to all other calves born at the same time on the farm. An inbreeding coefficient of 3.168% for the malformed calf and the exclusion of environmental causes for these malformations of the eyes let us suppose a hereditary problem.     

Congenital mastocytomas in a Holstein calf

Congenital defects occur infrequently in cattle. In this report, a stillborn Holstein calf was presented for unusual nodules in the skin. Necropsy and histopathologic findings aided in the diagnosis of systemic mastocytoma, or mast cell tumor. The diagnosis of congenital mastocytoma in this case is extremely rare and unique.     

Morphological variation of "complex vertebral malformation" in Holstein calves.

A study was performed to investigate the morphological expression of the inherited syndrome "complex vertebral malformation" (CVM) in Holstein calves. A total of 107 late-term aborted, premature, or neonatal calves suspected of having CVM were necropsied and retrospectively analyzed for the causal mutation in the gene SLC35A3. Sixty-two calves were homozygous affected, 16 were heterozygous, and 29 were homozygous normal. Calves affected by CVM were growth retarded. Vertebral lesions identified by radiography were present in 61 cases, of which 58 also had costal malformation. Malformation of the head, primarily in the form of dysplasia or palatoschisis, was present in 15 cases. Bilateral symmetric flexion of the carpal and metacarpophalangeal joints was present in all cases, whereas posterior arthrogryposis was found in 54 cases. Interventricular septal defects occurred in 33 calves, often in combination with other cardiac malformations. A wide spectrum of additional malformations was found. Other congenital syndromes were in most cases distinguishable from CVM on a morphological basis. However, a calf with a prenatal infection with bovine virus diarrhea virus constituted a phenocopy. The study demonstrated that the morphological expression of CVM is wide, but certain aspects, i.e., growth retardation, vertebral malformation, and symmetric arthrogryposis, are almost constant findings. However, cases without vertebral defects and phenocopies constitute a diagnostic problem. A presumptive diagnosis of CVM can in most cases be based on necropsy findings combined with information on descent and paternal CVM genotype, whereas a definitive diagnosis requires genotyping.     

Central nervous system and vertebral malformation resembling the Arnold-Chiari syndrome in a Simmental calf.

Multiple congenital anomalies were identified in a stillborn calf, including severe cerebellar hypoplasia and central nervous system abnormalities resembling the Arnold-Chiari syndrome of malformation of calves. The Arnold-Chiari malformation occurs sporadically and has little economic impact, whereas cerebellar hypoplasia implies the presence of BVD virus in the herd.     

Unilateral notomelia in a newborn Holstein calf

A 24-hour-old Holstein bull calf with notomelia was donated to the Atlantic Veterinary College. The extra limb was on the right side of the caudal neck adjacent to the withers. The limb was surgically removed under general anesthesia. The calf was adopted and discharged with no complications.     

Brachyspina syndrome in a Holstein calf.

A stillborn premature Holstein calf was necropsied. The calf had severely reduced body weight and shortening of the vertebral column. The limbs appeared long and thin. Radiography and computer tomography scanning were performed, demonstrating malformation of the vertebral column. In addition, malformation of the kidneys, testicles, and heart was found at necropsy. Histologically, absence or incomplete development of intervertebral discs and complete or partial fusion of the epiphyses of adjacent vertebrae were found. In some areas, diaphyses of adjacent vertebrae were fused due to absence of epiphyses and intervertebral discs. Disturbed ossification of epiphyses in the appendicular skeleton was also present. The etiology of this syndrome was not identified. An inherited cause is possible due to a close relationship between the parents.     

Case report--bilateral anotia in a German Holstein calf

In a female black and white coloured German Holstein calf bilateral anotia and impaired vision was observed. This congenital anomaly is very seldomly seen in cattle. The clinical examination revealed no further anomalies. The test on a BVDV infection was negative. No other affected calves could be detected by examining the relatives.     

Congenital aganglionosis in a 3-day-old Holstein calf

Necropsy of a 3-day-old Holstein heifer revealed proximal megacolon and distal colorectal hypoplasia. Histologically, the hypoplastic distal colon and rectum lacked submucosal and myenteric ganglia. Clinical history, physical examination, and pathologic findings were consistent with intestinal aganglionosis, a congenital anomaly well documented in humans and foals but not previously reported in cattle.