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Apert's syndrome.

A K Mukhopadhyay, D Mukherjee

    Indian Journal of Dermatology, Venereology and Leprology
    |July 24, 2007
    PubMed
    Summary
    This summary is machine-generated.

    Apert syndrome, a rare congenital disorder, typically involves craniosynostosis and syndactyly. This case highlights unusual cerebral cortical atrophy and a unique foot malformation in an infant with Apert syndrome.

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    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Pediatric Neurology

    Background:

    • Apert syndrome is a rare genetic disorder.
    • Characterized by craniosynostosis, mid-facial malformations, and syndactyly.
    • These features impact craniofacial development and limb formation.

    Purpose of the Study:

    • To report a novel case of Apert syndrome.
    • To describe previously undocumented associated findings.
    • To contribute to the understanding of Apert syndrome's phenotypic variability.

    Main Methods:

    • Clinical case presentation.
    • Review of patient's medical history and physical examination findings.
    • Radiographic and imaging analysis.

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    Main Results:

    • A 2-month-old female infant presented with classic Apert syndrome features.
    • The patient exhibited cerebral cortical atrophy, a rare complication.
    • A unique finding of bifurcation of the right first metatarsal base was observed.

    Conclusions:

    • This case expands the known spectrum of Apert syndrome manifestations.
    • Cerebral cortical atrophy and the described foot anomaly represent novel observations.
    • Further research is needed to understand the genetic and developmental basis of these variations.