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Related Experiment Videos

Ablepheron macrostomia syndrome

G T McCarthy, C M West

    Developmental Medicine and Child Neurology
    |October 1, 1977
    PubMed
    Summary
    This summary is machine-generated.

    This study reports two male children with a rare syndrome characterized by absent eyelids, facial abnormalities, ambiguous genitalia, and developmental delays. Further research is needed to understand its relationship to other cryptophthalmos syndromes.

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    Area of Science:

    • Genetics and Rare Diseases
    • Pediatric Medicine
    • Dermatology

    Background:

    • Cryptophthalmos syndromes are rare genetic disorders with significant phenotypic variability.
    • Previous reports highlight diverse clinical presentations, necessitating further case studies for comprehensive understanding.