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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
Summary
Klippel-Feil anomaly, a condition of fused cervical vertebrae, was studied in a family with autosomal dominant inheritance. This unique case highlights the condition
Area of Science:
- Genetics
- Developmental Biology
- Orthopedics
Background:
- Klippel-Feil anomaly involves the fusion of cervical vertebrae, often sporadic but with known inheritance patterns.
- Associated anomalies, like cleft palate, are frequently observed in Klippel-Feil anomaly cases.
Observation:
- A unique family exhibited autosomal dominant Klippel-Feil anomaly in six members.
- Four affected individuals also presented with cleft palate.
- One child with only cleft palate may develop cervical fusion later.
Findings:
- Autosomal dominant inheritance of Klippel-Feil anomaly and cleft palate confirmed in a multi-generational family.
- Variable expressivity observed, with some individuals showing only cleft palate initially.
Implications:
- This family's case provides insights into the genetic mechanisms and phenotypic variability of Klippel-Feil anomaly.
- Understanding inheritance patterns aids in genetic counseling and potential early diagnosis.