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  • Title: Autosomal dominant Klippel-Feil anomaly with cleft palate.
    Author: Thompson E, Haan E, Sheffield L.
    Journal: Clin Dysmorphol; 1998 Jan; 7(1):11-5. PubMed ID: 9546824.
    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.
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