Probable autosomal recessive Marfan syndrome

Area of Science:

• Genetics
• Medical Genetics
• Molecular Biology

Background:

• Marfan syndrome is a prevalent autosomal dominant connective tissue disorder.
• Typical Marfan syndrome is characterized by skeletal, ocular, and cardiovascular abnormalities.
• Genetic heterogeneity is increasingly recognized in Mendelian disorders.

Observation:

• A family presented with two affected sisters exhibiting classic Marfan syndrome features.
• Affected individuals had normal intelligence.
• Extensive clinical evaluation of parents and grandparents revealed no affected individuals.

Findings:

• The family's inheritance pattern was consistent with autosomal recessive inheritance.
• Homocystinuria, a differential diagnosis, was excluded.
• This case suggests Marfan syndrome may exhibit autosomal recessive inheritance in rare instances.

Implications:

• This finding expands the known genetic basis of Marfan syndrome.
• It highlights the importance of considering alternative inheritance patterns in genetic diagnostics.
• Further research is needed to identify the specific genetic mutations responsible for this rare form.