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[The 18p-syndrome (author's transl)].

F Aksu

    Monatsschrift Fur Kinderheilkunde
    |September 1, 1977
    PubMed
    Summary

    18p-syndrome is a genetic disorder characterized by intellectual disability and distinct facial features. Early clinical diagnosis is possible based on a combination of physical signs before genetic testing.

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    Area of Science:

    • Genetics
    • Clinical Medicine
    • Pediatrics

    Context:

    • 18p-syndrome is a rare chromosomal disorder.
    • The syndrome is associated with a specific set of physical anomalies.
    • Accurate diagnosis is crucial for patient management and genetic counseling.

    Purpose:

    • To outline the key clinical features indicative of 18p-syndrome.
    • To emphasize the importance of recognizing these features for early diagnosis.
    • To facilitate timely intervention and support for affected individuals.

    Summary:

    • 18p-syndrome presents with a constellation of physical characteristics including intellectual disability, short stature, microcephaly, hypertelorism, epicanthus, ptosis, and other craniofacial and limb abnormalities.
    • These phenotypic findings can strongly suggest a diagnosis of 18p-syndrome.
    • A clinical diagnosis can often be established prior to confirmatory chromosomal analysis.

    Impact:

    • Early identification of 18p-syndrome enables prompt medical and developmental interventions.
    • Recognizing the clinical phenotype aids in genetic counseling for families.
    • Improved understanding of the syndrome's presentation facilitates research and therapeutic development.

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