Mesh : Abnormalities, Multiple Child, Preschool Connective Tissue / physiopathology Finger Joint / physiopathology Flatfoot / congenital Fragile X Syndrome / diagnosis physiopathology Humans Male Movement Palate / abnormalities Sex Chromosome Aberrations / physiopathology

来  源:   DOI:10.1002/ajmg.1320170106   PDF(Sci-hub)

Abstract:
Eleven cytogenetically documented patients with the fragile X syndrome were evaluated for hyperextensibility of the finger joints and the presence of other manifestations of connective tissue dysfunction. All of the patients had hyperextensibility of several finger joints and many had features such as flat feet, highly arched palate and the ability to voluntarily dislocate finger joints. These traits, particularly hyperextensibility of the joints, are a useful aid in the clinical diagnosis of the fragile X syndrome.
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