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Related Experiment Videos

[Aglossia-adactilia syndrome]

D Saavedra Ontiveros, S K de Alfaro, D Ascencio

    Boletin Medico Del Hospital Infantil De Mexico
    |September 1, 1976
    PubMed
    Summary
    This summary is machine-generated.

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    Plastic and reconstructive surgery·1995
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    A 7-month-old girl was diagnosed with aglossia--adactylia syndrome, a rare congenital disorder. This case study explores the potential causes and contributing factors of this condition.

    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Pediatric Medicine

    Background:

    • Aglossia--adactylia syndrome is a rare congenital disorder characterized by the absence of the tongue and digits.
    • The exact etiology remains largely unknown, with theories suggesting genetic and environmental factors.
    • This condition presents significant challenges in feeding, speech, and overall development.

    Observation:

    • A 7-month-old female infant presented with features consistent with aglossia--adactylia syndrome.
    • Clinical examination revealed complete absence of the tongue and malformations of the digits.
    • The patient's developmental progress and specific clinical manifestations were meticulously documented.

    Findings:

    • The study focuses on the etiopathogenic aspects of aglossia--adactylia syndrome in the presented case.

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  • Detailed analysis of potential genetic mutations and teratogenic influences is discussed.
  • The findings aim to contribute to a better understanding of the syndrome's origins.

    • Implications:

    • Understanding the etiopathogenesis can aid in early diagnosis and genetic counseling.
    • This case highlights the importance of comprehensive multidisciplinary care for affected infants.
    • Further research into the molecular mechanisms may reveal potential therapeutic targets.