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Bilateral congenital split hand with tibial aplasia
1Department of Pediatrics, Kasturba Medical College, Mangalore, Karnataka, India. drshenoy2001@hotmail.com.
Indian Journal of Pediatrics
|November 9, 2004
Summary
This report details a rare case of split-hand and tibial aplasia in an Indian child, suggesting autosomal dominant inheritance. Early prenatal screening is crucial for affected families to detect these limb malformations.
Area of Science:
- Medical Genetics
- Developmental Biology
- Orthopedics
Background:
- Split-hand (ectrodactyly) and tibial aplasia are rare congenital limb malformations.
- Understanding the genetic basis and inheritance patterns is crucial for genetic counseling and management.
Observation:
- A case of bilateral typical split-hand and tibial aplasia is reported in an Indian child.
- Minor limb malformations were noted on the maternal side of the family.
Findings:
- The observed malformations suggest a potential autosomal dominant inheritance pattern.
- This represents possibly the first reported case of this specific combination in India.
Implications:
- Early prenatal diagnosis and screening are essential for families with a history of limb malformations.
- Further research into the genetic and environmental factors contributing to ectrodactyly and tibial aplasia is warranted.