نتایج جستجو برای: cutis laxa

تعداد نتایج: 2419  

2014
Yan Ma Jin-yu Zhang Chen Wang Wen Cen Xin Liu Wen-li Feng

We describe a case of generalized cutis laxa (CL) in a 7-year-old female child. At 2 months of age, she was found to have a hoarse voice, and at 3 years, she was much smaller than her peers. Her aging face and short stature caught our attention, and the treatment of the patient was accepted by our hospital. She underwent a thorough examination. X-ray of the wrist bone showed a markedly delayed ...

2016
Kyoung-Jin Park Jong-Ho Park June-Hee Park Eun Bin Cho Byoung Joon Kim Jong-Won Kim

Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilateral facial weakness, and tongue atrophy. His mother, maternal uncle, two sisters, and son suffere...

Journal: :Journal of medical genetics 1981
T J David B W Webb I R Gordon

A bizarre syndrome has hitherto masqueraded as leprechaunism, and although it is a quite different disorder it has been used as the prototype of leprechaunism in some birth defects atlases. It is proposed that this condition is designated the Patterson syndrome and details of a second case are reported. The features of this connective tissue and neuroendocrine disorder include bronzed hyperpigm...

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