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The Coffin-Siris syndrome: five new cases including two siblings
American Journal of Diseases of Children (1960)
|July 1, 1978
Summary
Coffin-Siris syndrome (CSS) presents with intellectual disability, nail abnormalities, and hypotonia. This study details ten cases, highlighting key features and suggesting autosomal recessive inheritance for CSS.
Area of Science:
- Genetics and Developmental Biology
- Clinical Medicine
- Pediatric Neurology
Background:
- Coffin-Siris syndrome (CSS) is a rare genetic disorder.
- Understanding its phenotypic spectrum and inheritance patterns is crucial for diagnosis and management.
Observation:
- Ten cases of Coffin-Siris syndrome were analyzed, including five new and five previously reported cases.
- Consistent features observed were intellectual disability, nail hypoplasia (especially fifth digits), hypotonia, feeding difficulties, and delayed bone age.
- Frequent findings included growth deficiency, microcephaly, distinctive facial features, and hair anomalies.
Findings:
- The craniofacial phenotype of CSS evolves with age, becoming more pronounced in older individuals.
- Less frequent but significant findings included short philtrum, scoliosis, reduced fetal movement, SGA, and congenital heart defects.
- Autosomal recessive inheritance is suspected based on a sibling pair affected with CSS.
Implications:
- This comprehensive case review refines the understanding of Coffin-Siris syndrome's clinical presentation.
- Identifying consistent and variable features aids in earlier diagnosis and genetic counseling.
- Further research into the genetic basis of CSS is warranted, particularly regarding the suspected autosomal recessive inheritance pattern.