Evaluation of qualitative methods for phenotyping brachymesophalangia-V from radiographs of children

Kimberly D. Williams, Ramzi W. Nahhas, Carol R. Cottom, Sharon Lawrence, Janardan Subedi, Bharat Jha, Stefan A. Czerwinski, John Blangero, Sarah Williams-Blangero, Bradford Towne

    Research output: Contribution to journalArticlepeer-review

    5 Scopus citations

    Abstract

    Objective: Brachymesophalangia-V (BMP-V), the general term for a short and broad middle phalanx of the 5th digit, presents both alone and in a large number of complex brachydactylies and developmental disorders. Past anthropological and epidemiological studies of growth and development have examined the prevalence of BMP-V because small developmental disorders may signal more complex disruptions of skeletal growth and development. Historically, however, consensus on qualitative phenotype methodology has not been established. In large-scale, non-clinical studies such as the Fels Longitudinal Study and the Jiri Growth Study, quantitative assessment of the hand is not always the most efficient manner of screening for skeletal dysmorphologies. The current study evaluates qualitative phenotyping techniques for BMP-V used in past anthropological studies of growth and development to establish a useful and reliable screening method for large study samples. Methods: A total of 1,360 radiographs from Jiri Growth Study participants aged 3-18 years were evaluated. BMP-V was assessed using three methods: (1) subjective evaluation of length and width of the bone; (2) comparison with skeletal age-matched radiographs; and (3) subjective evaluation of the length of the middle 4th and 5th phalanges. Results: We found that the method that uses skeletal age-matched reference radiographs is the better tool for assessing BMP-V because it considers the shape, rather than solely the length and width of the bone, which can be difficult to judge accurately without measurement. This study highlights the complexity of phenotypic assessment of BMP-V and by extension other brachydactylies.

    Original languageEnglish (US)
    Pages (from-to)68-73
    Number of pages6
    JournalAmerican Journal of Human Biology
    Volume24
    Issue number1
    DOIs
    StatePublished - Jan 2012

    ASJC Scopus subject areas

    • Anatomy
    • Ecology, Evolution, Behavior and Systematics
    • Anthropology
    • Genetics

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