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A case of cardio-facio-cutaneous syndrome
1Pediatric Department, St. Mary's Hospital, Newport, Isle of Wight, England.
American Journal of Medical Genetics
|August 1, 1989
Insights
Cardio-facio-cutaneous syndrome is a rare genetic disorder. This case report details a British child with typical features, including developmental delays and distinctive facial characteristics.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Cardio-facio-cutaneous (CFC) syndrome is a rare autosomal dominant disorder.
- It is characterized by a distinct facial appearance, heart defects, and ectodermal abnormalities.
Observation:
- A 6-year-old British girl presented with failure to thrive at 3 months.
- She exhibited mental and growth retardation, macrocephaly, distinctive facial features, abnormal hair, eczema, cardiac defect, splenomegaly, and multiple hemangiomata.
Findings:
- The patient's clinical presentation is consistent with Cardio-facio-cutaneous syndrome.
- This represents the first identified case of CFC syndrome in Britain.
Implications:
- Early diagnosis of CFC syndrome is crucial for appropriate management.
- This case highlights the importance of recognizing rare genetic disorders in pediatric populations.
- Further research into CFC syndrome can improve understanding and treatment strategies.
Abstract:
A 6-yr-old girl is described who presented with failure to thrive at age 3 months and was found to have mental retardation, growth retardation, disproportionately large head, distinctive face, abnormal hair, eczema, heart defect, splenomegaly, and multiple hemangiomata. She is thought to have the cardio-facio-cutaneous syndrome and to be the first such case identified in Britain.