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Dominant CHARGE association.

J A Mitchell, J Giangiacomo, M A Hefner

    Ophthalmic Paediatrics and Genetics
    |August 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

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    This study investigates a family with dominant CHARGE association, identifying five affected individuals across four generations. Findings suggest autosomal dominant inheritance, though X-linked dominant inheritance cannot be excluded.

    Area of Science:

    • Genetics
    • Ophthalmology
    • Pediatrics

    Background:

    • CHARGE association is a rare genetic disorder.
    • Understanding its inheritance patterns is crucial for genetic counseling.

    Observation:

    • Examined eight individuals in four generations of a family with dominant CHARGE association.
    • Five individuals across three generations were affected, presenting with coloboma, mental retardation, hypogonadism, malformed ears, and midface anomalies.
    • Affected individuals exhibited a distinct midface configuration: malar hypoplasia, prominent nasal columnella, and long nasal philtrum.

    Findings:

    • The inheritance pattern in this family strongly suggests autosomal dominant inheritance of CHARGE association.
    • Specific clinical features included various forms of coloboma (iris, retina, choroid, optic disc), mental retardation, hypogonadism, and dysmorphic ear features.

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  • Facial dysmorphology, characterized by midface hypoplasia, was consistently observed in affected members.

    • Implications:

    • This detailed family study contributes to the understanding of CHARGE association's genetic basis.
    • Further research is needed to confirm the mode of inheritance, particularly given the limited reproductive history of affected males.
    • Accurate diagnosis and genetic counseling are vital for families affected by CHARGE association.