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https://hdl.handle.net/2440/7134
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Type: | Journal article |
Title: | Autosomal dominant Klippel-Feil anomaly with cleft palate |
Author: | Thompson, E. Haan, E. Sheffield, L. |
Citation: | Clinical Dysmorphology, 1998; 7(1):11-15 |
Publisher: | LIPPINCOTT WILLIAMS & WILKINS |
Issue Date: | 1998 |
ISSN: | 0962-8827 1473-5717 |
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. |
Keywords: | Humans Klippel-Feil Syndrome Cleft Palate Radiography Pedigree Genes, Dominant Adult Child Child, Preschool Female Male |
DOI: | 10.1097/00019605-199801000-00002 |
Published version: | http://dx.doi.org/10.1097/00019605-199801000-00002 |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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