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Published on: March 4, 2014
Cleft hand without absence of a finger
1Department of Orthopedic Surgery, Hokkaido University, School of Medicine, Sapporo, Japan.
Cleft hand, a central defect, can occur with a normal number of digits. This less severe form shares similar teratogenic mechanisms with missing-finger cleft hands, suggesting a failure in finger ray separation.
Area of Science:
- Congenital Hand Anomalies
- Developmental Biology
- Clinical Genetics
Background:
- Cleft hand is a congenital anomaly characterized by a central longitudinal defect of the hand.
- While often associated with missing digits, cleft hand can present with a normal digital count.
Observation:
- This study reports six cases of cleft hand with a normal number of digits.
- Associated anomalies included syndactyly (cutaneous and digital) and cleft foot.
- Clinical presentation of normal-digit cleft hand was similar to cases with absent fingers.
Findings:
- The teratogenic mechanism for cleft hand with a normal digital count is hypothesized to be the same as for cleft hand with missing digits: failure of finger ray separation.
- Cone-shaped cleft hand is identified as a phenotype resulting from failed differentiation of finger rays.
Implications:
- Understanding the shared etiology of different cleft hand phenotypes aids in diagnosis and management.
- Further research into the specific molecular pathways of finger ray differentiation is warranted.
- This study contributes to the classification and understanding of congenital hand anomalies.
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