Mankin Henry J, Jupiter Jesse, Trahan Carol Ann
Hand (N Y). 2011 Mar;6(1):18-26. doi: 10.1007/s11552-010-9302-8. Epub 2010 Oct 26.
The small bones and soft tissues of the hands and feet can be affected by systemic disorders, and frequently, the findings are quite unique and virtually diagnostic for some genetic or metabolic disorders.
Photographs and imaging studies for the hands and feet are available in a digitized system, which has been approved by our hospital institutional review board. Examination of these and their description can establish a relationship with some degree of certainty to a series of highly variable and uncommon clinical disorders.
Description of the clinical, physiologic and genetic characteristics, and illustrations of hand and foot abnormalities are provided for an array of diseases, including Ellis-van Creveld syndrome, fibrodysplasia ossificans progressiva, achondroplasia, Kniest dysplasia, pseudo- and pseudo-pseudohypoparathyroidism, acromegaly, nail-patella syndrome, Marfan's disease, cartilage-hair hypoplasia, and several forms of mucopolysaccharidosis.
The findings support the concept that many genetic disorders can often be diagnosed by clinical and imaging examination of the patient's hands and feet.
手足的小骨骼和软组织会受到全身性疾病的影响，而且这些疾病的表现往往十分独特，实际上对某些遗传性或代谢性疾病具有诊断意义。
手足的照片和影像学检查资料存于一个数字化系统中，该系统已获我院机构审查委员会批准。对这些资料进行检查并加以描述，能在一定程度上确定与一系列高度可变且罕见的临床疾病之间的关联。
针对一系列疾病，包括埃利斯-范克里维尔德综合征、进行性骨化性纤维发育不良、软骨发育不全、克尼斯发育不良、假性和假性假甲状旁腺功能减退、肢端肥大症、指甲-髌骨综合征、马方综合征、软骨毛发发育不全以及多种黏多糖贮积症，提供了临床、生理和遗传特征的描述以及手足异常的图示。
这些发现支持了这样一种观点，即许多遗传性疾病往往可通过对患者手足进行临床和影像学检查来诊断。
