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Related Experiment Videos

Separating monosomy-21 from the "arthrogryposis basket"

C S Houston, A E Chudley

    Journal of the Canadian Association of Radiologists
    |December 1, 1981
    PubMed
    Summary

    Monosomy-21, a rare genetic condition, leads to severe developmental issues and distinctive facial features in infants. This case highlights the critical, though brief, life of an infant diagnosed with this syndrome.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Developmental Biology

    Background:

    • Monosomy-21 is a rare chromosomal abnormality with significant implications for infant development.
    • Understanding the phenotypic spectrum of monosomy-21 is crucial for diagnosis and management.
    • Arthrogryposis and intrauterine growth retardation are commonly associated with chromosomal disorders.

    Observation:

    • A neonate diagnosed with monosomy-21 survived for 20 minutes.
    • Clinical and radiological examinations suggested arthrogryposis, characterized by joint mobility restriction, deformities, and malposition of digits.
    • Distinctive craniofacial features were noted, including a broad nasal base, antimongoloid palpebral slant, carp-shaped mouth, micrognathia, and low-set ears.

    Findings:

    • Infants with monosomy-21 exhibit severe intrauterine growth retardation and failure to thrive.
    • Arthrogryposis-like findings, such as joint dislocations and flexion deformities, are characteristic.
    • Specific facial dysmorphies aid in differentiating monosomy-21 from isolated arthrogryposis.

    Implications:

    • This case underscores the severe impact of monosomy-21 on fetal development and neonatal viability.
    • Early recognition of characteristic features can aid in the diagnosis of monosomy-21.
    • Further research into monosomy-21 is needed to understand its variable presentation and long-term outcomes.

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