title: Klippel-Feil syndrome associated with situs inversus: description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes.
abstract: OBJECTIVE
  Klippel-Feil syndrome is characterized by faulty segmentation of two or more cervical vertebrae and, in its most severe form, consists of massive cervical vertebral fusion, short neck, low posterior hairline, and limitation of head movement. Several cases associating Klippel-Feil syndrome with situs inversus totalis have been reported. In the present study, we describe the clinical features of a novel case of Klippel-Feil syndrome associated with situs inversus totalis and searched for mutations in GDF1, GDF3 and GDF6 genes, which were recently implicated in the development of skeletal and visceral anomalies.
  
  
  METHODS
  A case of Klippel-Feil syndrome associated with situs inversus totalis underwent a full clinical examination including X-ray of cervical spine and thorax, abdominal ultrasound, and computerized tomography scanning of thorax and abdomen. PCR amplification and automated nucleotide sequencing of coding exons and intron-exon junctions of GDF1, GDF3, and GDF6 genes were performed in genomic DNA.
  
  
  RESULTS
  No molecular alterations were found in GDF1, GDF3 and GDF6 genes in this patient.
  
  
  CONCLUSIONS
  An additional patient associating Klippel-Feil syndrome and situs inversus totalis is reported. Mutations in GDF1, GDF3, and GDF6 genes were excluded as the cause of this unusual clinical association.
authors.affiliation: Department of Genetics, Institute of Ophthalmology, Conde de Valenciana, Chimalpopoca 14, Col. Obrera, Mexico City, Mexico.
authors.forename: Oscar
authors.initials: O
authors.lastname: Chacón-Camacho
authors.forename: Leyla
authors.initials: L
authors.lastname: Camarillo-Blancarte
authors.forename: Hugo
authors.initials: H
authors.lastname: Pelaez-González
authors.forename: Jaime
authors.initials: J
authors.lastname: Mendiola
authors.forename: Juan C
authors.initials: JC
authors.lastname: Zenteno
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D055452:Growth Differentiation Factor 1 / Q000235:genetics*; D055451:Growth Differentiation Factor 3 / Q000235:genetics*; D055431:Growth Differentiation Factor 6 / Q000235:genetics*; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D012857:Situs Inversus / Q000000981:diagnostic imaging* / Q000235:genetics
chemical_list: C525977:GDF1 protein, human; C525974:GDF3 protein, human; C525906:GDF6 protein, human; D055452:Growth Differentiation Factor 1; D055451:Growth Differentiation Factor 3; D055431:Growth Differentiation Factor 6