Monozygotic twins concordant for Rubinstein-Taybi syndrome: changing phenotype during infancy

Area of Science:

• Genetics and rare diseases
• Pediatric neurology
• Developmental biology

Background:

• Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and broad thumbs/toes.
• Early diagnosis and understanding of RSTS progression are crucial for effective management and intervention.
• Monozygotic twins provide a unique model for studying genetic conditions due to their identical genetic makeup.

Observation:

• The case report focuses on monozygotic twin sisters diagnosed with Rubinstein-Taybi syndrome at 10 weeks of age.
• Detailed clinical observations captured the development of typical RSTS features from infancy.
• The twins' phenotype evolved, exhibiting the complete 'Gestalt' of Rubinstein-Taybi syndrome by 2 years and 10 months.

Findings:

• The twins presented concordant for Rubinstein-Taybi syndrome, indicating a strong genetic influence.
• The study documents the progressive manifestation of RSTS features in early childhood.
• The 'Gestalt' of Rubinstein-Taybi syndrome became fully apparent over time, highlighting developmental aspects of the condition.

Implications:

• This case underscores the utility of twin studies in understanding the phenotypic spectrum and progression of genetic syndromes like RSTS.
• Insights into RSTS development can inform early diagnostic criteria and prognostic assessments.
• Further research into the genetic and epigenetic factors influencing RSTS progression is warranted.