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Identical twins with Cohen syndrome
K N North1, A B Fulton, D A Whiteman
1Department of Medicine, Children's Hospital, Boston, Massachusetts 02115, USA.
American Journal of Medical Genetics
|July 31, 1995
Summary
This study details the first identical twin case of Cohen syndrome, presenting with typical and unusual symptoms like precocious puberty. The findings highlight the phenotypic heterogeneity of this rare genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Ophthalmology
Background:
- Cohen syndrome is a rare genetic disorder with characteristic facial features, developmental delay, and hypotonia.
- Diagnostic criteria for Cohen syndrome have been proposed but require further validation.
- Phenotypic variability is recognized, but specific manifestations can vary significantly between affected individuals.
Observation:
- Identical female twins presented with retinal degeneration, obesity, and mental retardation, fulfilling proposed Cohen syndrome criteria.
- The twins exhibited a characteristic facial appearance associated with Cohen syndrome.
- Unusual features included tall stature, macrocephaly, and transient cardiomyopathy in infancy.
Findings:
- The case represents the first documented instance of Cohen syndrome in identical twins.
- Precocious puberty was observed in both twins, a finding not previously reported in Cohen syndrome.
- Metabolic and cytogenetic analyses revealed no abnormalities, underscoring the genetic complexity.
Implications:
- This case expands the known phenotypic spectrum of Cohen syndrome.
- It underscores the importance of recognizing phenotypic heterogeneity in rare genetic disorders.
- Further research is needed to elucidate the genetic underpinnings and variability of Cohen syndrome.