نتایج جستجو برای: triphalangeal thumb
تعداد نتایج: 6801 فیلتر نتایج به سال:
This report describes a 2-month-old female with the Aase syndrome, bringing to 8 the total number of cases of this disorder. Features include triphalangeal thumbs and congenital hypoplastic anaemia. The occurrence of this disorder in sibs born to unaffected parents and in both sexes makes autosomal recessive inheritance the most likely aetiology.
Preaxial polydactyly (PPD) is inherited in an autosomal dominant fashion and characterized by the presence of one or more supernumerary digits on the thumb side. It had been identified that point mutation or genomic duplications of the long-range limb-specific cis-regulator - zone of polarizing activity regulatory sequence (ZRS) cause PPD or other limb deformities such as syndactyly type IV (SD...
This article reports a systematic research effort aimed at establishing a normative database of thumb circumduction range of motion (ROM) and related kinematic characteristics in vivo while examining the effects of anthropometry, gender, and direction of rotation. Twenty-eight (14 men, 14 women) anthropometrically diverse participants performed maximum voluntary thumb circumductions as the traj...
Triphalangeal thumbs (TPTs) are regularly caused by mutations in the ZRS in LMBR1. Phenotypic variability can be present in TPT-families. However, recent observations suggest an increased occurrence of severe phenotypes in the Dutch TPT-population. Therefore, the aim of this study is to investigate the progression of the clinical severity of TPT-phenotype through generations. Index patients fro...
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