Related Experiment Videos
Congenital myopathy with cleft palate and increased susceptibility to malignant hyperthermia: King syndrome?
C R Stewart1, S G Kahler, J M Gilchrist
1Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
Insights
This study describes a rare congenital myopathy syndrome in children, characterized by cleft palate, skeletal anomalies, and malignant hyperthermia susceptibility. The findings suggest an autosomal recessive inheritance pattern, crucial for recognizing surgical risks.
Area of Science:
- Genetics
- Pediatrics
- Anesthesiology
Background:
- Congenital myopathies can present with complex phenotypes.
- Malignant hyperthermia (MH) susceptibility is a critical concern during anesthesia.
- Syndromic presentations require thorough genetic and clinical evaluation.
Purpose of the Study:
- To present a consistent syndrome in children involving congenital myopathy, cleft palate, skeletal anomalies, and MH susceptibility.
- To investigate the potential inheritance pattern of this rare disorder.
- To highlight the anesthetic implications for affected individuals.
Main Methods:
- Clinical case series presentation.
- Description of phenotypic findings in six children.
- Analysis of family relationships and inheritance patterns.
Main Results:
- Six children with similar ethnic backgrounds presented with a consistent set of anomalies: congenital myopathy, cleft palate, skeletal anomalies, and malignant hyperthermia susceptibility.
- Three of the affected children were related, suggesting a potential genetic link.
- The syndrome is hypothesized to be inherited as an autosomal recessive trait.
Conclusions:
- A distinct syndrome affecting children with congenital myopathy, cleft palate, skeletal anomalies, and MH susceptibility is identified.
- Autosomal recessive inheritance is likely for this syndrome.
- Recognition of this predisposition is vital for safe surgical and anesthetic management in affected children.
Abstract:
Six children of similar ethnic origin with congenital myopathy, cleft palate, malignant hyperthermia (or susceptibility to malignant hyperthermia), and skeletal anomalies are presented. The findings are remarkably consistent among our patients, 3 of whom were related. This syndrome is likely to be inherited as an autosomal recessive trait. Children with this disorder are likely to undergo surgery with general anesthesia for facial or skeletal deformities and should be recognized as predisposed to developing malignant hyperthermia.