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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.
Insights
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.
Abstract:
We report the first case of identical female twins who satisfy the proposed diagnostic criteria for Cohen syndrome. The sisters presented with retinal degeneration, obesity and mental retardation, and had the characteristic facial appearance. The manifestations of previously reported cases of Cohen syndrome are reviewed. Unusual changes in our patients include tall stature, macrocephaly, and transient cardiomyopathy during the first year of life. These anomalies have been reported previously in other patients with Cohen syndrome, and suggest that the disorder is phenotypically heterogeneous. Precocious puberty was present in both girls; the latter findings have not been reported previously in the Cohen syndrome. Detailed metabolic and cytogenetic analysis demonstrated no abnormalities.