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Published on: March 4, 2014
Bilateral congenital split hand with tibial aplasia
1Department of Pediatrics, Kasturba Medical College, Mangalore, Karnataka, India. drshenoy2001@hotmail.com.
Insights
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.
Abstract:
The authors report on a child with bilateral typical split-hand (ectrodactyly) and tibial aplasia, probably the first Indian report. Minor limb malformations in the maternal side suggests an autosomal dominant inheritance. The clinical spectrum and the inheritance of this malformation are discussed. Prenatal screening in families with such malformations is essential.
