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Autosomal dominant Klippel-Feil anomaly with cleft palate
E Thompson1, E Haan, L Sheffield
1Department of Medical Genetics, Centre for Medical Genetics, Women's and Children's Hospital, North Adelaide, South Australia. thompsone@wch.sa.gov.au
Clinical Dysmorphology
|April 18, 1998
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.