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Multiple pterygium syndrome (Escobar syndrome)--a case report
1Department of Paediatrics, Tan Tock Seng Hospital, Singapore.
Singapore Medical Journal
|April 1, 1994
Summary
This case report describes a 4-year-old boy diagnosed with Escobar Syndrome, a rare genetic disorder. The study highlights the characteristic physical features associated with this condition.
Area of Science:
- Medical Genetics
- Pediatrics
- Rare Diseases
Background:
- Escobar Syndrome is a rare genetic disorder.
- It can be inherited sporadically or via autosomal recessive inheritance.
- Key features include physical abnormalities and normal intelligence.