complex vertebral malformation(cvm) isanautosomal recessivehereditarydisorder caused bya point mutation in position 559 inexon 4 of the slc35a3 gene on chromosome 3 inholstein dairy cattle.this mutationchanges the function of uridine 5-diphosphate-n-acetylglucosamine transporter protein bythe substitution of valine for phenylalanine at position 180 of this protein. the disease causes premature ...

Complex vertebral malformation(CVM) isanautosomal recessivehereditarydisorder caused bya point mutation in position 559 inexon 4 of the SLC35A3 gene on chromosome 3 inHolstein dairy cattle.This mutationchanges the function of uridine 5-diphosphate-N-acetylglucosamine transporter protein bythe substitution of valine for phenylalanine at position 180 of this protein. The disease causes premature ...

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 hemiv...

Congenital cervico-thoracic kyphosis has been encountered in a girl with Pierre Robin sequence. The constellation of the spine malformation complex such as incomplete development of the vertebral bodies associated with defective ossification of the cervico-thoracic pedicles causing effectively the development of complete spinal cord injury at the kyphotic level of C7/T1 were present. Congenital...

Caudal regression syndrome (CRS) is characterized by a group of heterogeneous anomalies involving the distal spinal cord and vertebral column, genitourinary system, hind gut and limbs. The malformation may range from minor anomalies of spine and spinal cord to the extreme, the sirenomelia. Various authors pointed out an overlap of spectrum of anomalies in CRS and VACTERL (vertebral, anorectal, ...