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[The Ehlers-Danlos and Marfan syndromes in young children]
A De Paepe1, H Van den Bossche, G Mortier
1Centre de Génétique Médicale, Clinique Universitaire, Gent, Belgique.
Insights
Early diagnosis of Ehlers-Danlos syndrome (EDS) type IV and Marfan syndrome in children is crucial. Genetic testing for collagen defects aids EDS diagnosis, while clinical and echographic evaluations are key for Marfan syndrome.
Area of Science:
- Pediatric genetics and rare connective tissue disorders.
Background:
- Early diagnosis of Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) in children is essential for timely management.
- This study highlights diagnostic approaches using case histories.
Observation:
- EDS type IV was suspected in a 3-year-old based on clinical signs and family history, with diagnosis confirmed by detecting a collagen type III defect.
- Marfan syndrome was suspected in a 12-year-old girl and her 2-year-old brother based on clinical signs, confirmed by body proportion measurements and echocardiography.
Findings:
- A collagen type III defect was identified in skin fibroblasts, confirming EDS type IV.
- Genetic linkage analysis using COL3A1 polymorphism demonstrated a connection between the allele and disease expression.
- Biochemical and molecular investigations for Marfan syndrome were inconclusive in these cases.
Implications:
- Establishes the utility of genetic and clinical diagnostic tools for early identification of EDS and MFS in pediatric populations.
- Suggests potential for improved therapeutic strategies and patient outcomes through early diagnosis.
- Underscores the importance of integrating clinical observation with laboratory diagnostics for rare genetic disorders.
Abstract:
Early diagnosis of Ehlers-Danlos and Marfan syndromes in children is illustrated by personal case histories. EDS type IV was suspected in a 3 years old child on the basis of minor clinical signs with positive familial history. Detection of a collagen type III defect in cultured skin fibroblasts confirmed the diagnosis. Using a restriction site polymorphism associated with the structural gene for human type III collagen (COL3A1), tight linkage was found between the polymorphic allele and the clinical expression of the disease. The diagnosis of Marfan syndrome was suspected in a 12 years old girl and her 2 years old brother on the basis of major clinical signs and confirmed after measurement of body proportions and echographic examination. Further biochemical and molecular investigations were not informative. The new therapeutic perspectives in the two syndromes are briefly discussed.