title: Autosomal dominant Klippel-Feil anomaly with cleft palate.
abstract: Klippel-Feil anomaly is characterized by the fusion of two or more cervical vertebrae. Most cases are sporadic but dominant and recessive inheritance are well described. Associated anomalies such as a cleft palate are common. We describe a unique family with autosomal dominantly inherited Klippel-Feil anomaly in six individuals associated with a cleft palate in four. One patient, a child, has a cleft palate only but may develop radiological cervical fusion with time, as documented in two other family members.
authors.affiliation: Department of Medical Genetics, Centre for Medical Genetics, Women's and Children's Hospital, North Adelaide, South Australia. thompsone@wch.sa.gov.au
authors.forename: E
authors.initials: E
authors.lastname: Thompson
authors.forename: E
authors.initials: E
authors.lastname: Haan
authors.forename: L
authors.initials: L
authors.lastname: Sheffield
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000150:complications* / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011859:Radiography