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Partial biotinidase deficiency associated with Coffin-Siris syndrome
A B Burlina1, W G Sherwood, F Zacchello
1Department of Paediatrics, University of Padova, Italy.
European Journal of Pediatrics
|June 1, 1990
Summary
Coffin-Siris syndrome, a rare genetic disorder, involves developmental delays and distinctive physical features. This case highlights a patient with Coffin-Siris syndrome and partial biotinidase deficiency, suggesting a potential link.
Area of Science:
- Genetics
- Metabolic Disorders
- Pediatrics
Background:
- Coffin-Siris syndrome is a rare genetic disorder characterized by intellectual disability, hypoplastic nails (especially fifth digit), and feeding difficulties.
- Associated features include sparse scalp hair and chronic eczema, impacting patient quality of life.
Observation:
- A 26-month-old female patient presented with symptoms consistent with Coffin-Siris syndrome.
- The patient was also diagnosed with partial biotinidase deficiency, an inborn error of metabolism.
Findings:
- This case report details the co-occurrence of Coffin-Siris syndrome and partial biotinidase deficiency in a young child.
- The findings suggest a potential, previously unreported association between these two conditions.
Implications:
- Further research is warranted to explore the potential genetic or metabolic links between Coffin-Siris syndrome and biotinidase deficiency.
- Understanding this association may lead to improved diagnostic approaches and targeted therapies for affected individuals.