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Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea--a new syndrome
J E Deal1, T M Barratt, M J Dillon
1Department of Paediatric Nephrology, Hospital for Sick Children, London, UK.
Insights
A new genetic syndrome in infants from consanguineous marriages presents with Fanconi syndrome, ichthyosis, and platelet abnormalities. This severe condition led to poor outcomes, with all infants dying by six months.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Consanguineous marriages increase the risk of autosomal recessive genetic disorders.
- Early identification of novel genetic syndromes is crucial for understanding disease mechanisms and potential interventions.
Observation:
- Six infants from consanguineous families presented with a novel syndrome.
- Clinical features included Fanconi syndrome, ichthyosis, musculoskeletal abnormalities, jaundice, diarrhea, and grey platelet syndrome.
- No known metabolic disorders or previously described syndromes matched the presentation.
Findings:
- The described syndrome is a distinct clinical entity.
- Infants experienced severe health complications requiring intensive medical support.
- All affected infants unfortunately succumbed to dehydration, acidosis, and sepsis by six months of age.
Implications:
- This syndrome highlights the importance of genetic counseling in consanguineous populations.
- Further research is needed to identify the specific genetic mutation responsible.
- Understanding this syndrome may offer insights into related genetic disorders and platelet function.
Abstract:
We describe six infants, from consanguineous marriages, with a new syndrome comprising the Fanconi syndrome, ichthyosis, musculoskeletal abnormalities, jaundice and diarrhoea. In addition two of the infants were found to have abnormal platelet morphology--the grey platelet syndrome. No evidence of a recognised metabolic disorder was found in any of the six infants, nor did they appear to be typical of any previously described syndromes. Their progress was poor: they required high fluid and bicarbonate intakes and all died by the age of 6 months of dehydration, acidosis and sepsis.