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Bilateral proximal delta phalanges: an unusual presentation of familial congenital clinodactyly

Steven B Albright, Amy S Xue, John C Koshy

    Hand (New York, N.Y.)
    |September 4, 2012
    PubMed

    Insights

    This study details a rare congenital hand anomaly in a young boy, characterized by bilateral delta phalanges and secondary ossification centers causing finger deviation. The condition appears to be inherited, with family members exhibiting milder forms.

    Area of Science:

    • Orthopedics
    • Genetics
    • Pediatric Medicine

    Background:

    • Congenital hand anomalies are diverse, impacting function and aesthetics.
    • Clinodactyly, a curvature of a digit, is a common manifestation.
    • Unique presentations require detailed reporting for diagnostic and genetic understanding.

    Purpose of the Study:

    • To report a novel case of bilateral proximal delta phalanges with secondary distal accessory ossification centers.
    • To describe the clinical presentation of severe ulnar deviation at the proximal interphalangeal joints.
    • To investigate the potential genetic basis of this unique congenital clinodactyly.

    Main Methods:

    • Case report of a 16-month-old male with bilateral hand deformities.
    • Clinical examination and radiographic assessment of affected digits.
    • Family history collection to evaluate inheritance patterns.

    Main Results:

    • The patient presented with bilateral proximal delta phalanges and secondary distal accessory ossification centers.
    • Severe bilateral ulnar deviation was observed at the proximal interphalangeal joints.
    • Similar, though less severe, deformities were noted in several family members.

    Conclusions:

    • This represents a unique, previously unreported occurrence of congenital clinodactyly.
    • The familial pattern suggests an autosomal dominant inheritance with incomplete penetrance and variable expressivity.
    • Further research is warranted to understand the specific genetic and developmental mechanisms.

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