title: [Vertebral and multiple organ malformations in a black and white German Holstein calf].
abstract: A male black and white German Holstein calf showed a congenital, high-graded scoliosis and rotation of the thoracal spinal cord associated with shortening and fusion of multiple vertebral bodies and abnormal bending of the processus spinosus. Furthermore reduced birth weight, partial hypoplasia of the lung, excessive liver segmentation, doubled gall bladder, rectal atresia, horseshoe kidney, and uterine atresia were found. Due to the exclusion of a point mutation in exon 4 of the solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 (SLC35A3) gene, complex vertebral malformation (CVM) was ruled out. Conclusively, it is hypothetized that the presented case resembles a new brachyspina syndrome with a still unresolved genetic etiology.
authors.affiliation: Institut fürTierzucht und Vererbungsforschung, Stiftung Tierärztliche Hochschule Hannover.
authors.forename: Bettina Constanze
authors.initials: BC
authors.lastname: Buck
authors.forename: Reiner
authors.initials: R
authors.lastname: Ulrich
authors.forename: Anne
authors.initials: A
authors.lastname: Wöhlke
authors.forename: Heidi
authors.initials: H
authors.lastname: Kuiper
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Baumgärtner
authors.forename: Ottmar
authors.initials: O
authors.lastname: Distl
mesh_terms: D000818:Animals; D002417:Cattle; D005091:Exons; D017809:Fatal Outcome; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics; D017354:Point Mutation; D012600:Scoliosis / Q000235:genetics / Q000473:pathology / Q000662:veterinary; D013131:Spine / Q000002:abnormalities*; D014537:Uridine Diphosphate N-Acetylglucosamine / Q000235:genetics
chemical_list: D009004:Monosaccharide Transport Proteins; D014537:Uridine Diphosphate N-Acetylglucosamine