The Coffin-Lowry syndrome.
نویسنده
چکیده
منابع مشابه
Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran
Coffin-Lowry syndrome (CLS) is an X-linked disorder, which affects hemizygous males more severely than females. It is characterized by mental retardation, short stature, head and facial abnormalities, skeletal anomalies and developmental delays. The signs and symptoms vary in different people. We report a 14-year-old male patient, diagnosed with CLS based on his clinical features. Genetic testi...
متن کاملCoffin-Lowry phenotype in a patient with a complex chromosome rearrangement.
The eponym Coffin-Lowry syndrome has been used by clinical geneticists for over a quarter of a century now, since first proposed by Temtamy et al in 1975. The syndrome refers to a recognisable clinical condition, characterised by mental retardation, characteristic facial appearance, and skeletal abnormalities. Most geneticists would consider that the condition represents a fairly good example o...
متن کاملA female phenotype with coffin-lowry syndrome
Coffin-Lowry syndrome (CLS, MIM # 303600) is a rare X-linked semi-dominant mental retardation disorder (XLMR). It was first reported independently by Coffin et al. [1] and Lowry et al. [2] and recognized as a novel syndrome of neurocognitive impairment, growth retardation, facial dysmorphism, puffy proximal digits, tapering digits and progressive skeletal changes by Temtamy et al. [3] in 1975. ...
متن کامل18 Case 1
A 20-year-old male had full manifestation of Coffin-Lowry syndrome and 6 year history of progressively severe drop episodes. His drop episodes were precipitated by unexpected sudden auditory stimuli, and were not associated with electroencephalographical changes. The positron emission tomography disclosed metabolic reduction over bilateral temporal-parietal cortex which could contribute to his ...
متن کاملEnhanced accumulation of hyaluronate in the culture of skin fibroblasts from two patients with Coffin-Lowry syndrome.
Cultured skin fibroblasts were prepared from two unrelated adult patients with full expressions of Coffin-Lowry syndrome. Glycosaminoglycans (GAGs) were isolated either from the medium or from the cell layer of cultured skin fibroblasts. Two-dimensional electrophoresis of GAG preparations on cellulose acetate film revealed that hyaluronate was the major component both in the medium and in the c...
متن کاملMechanical ventilation in Coffin-Lowry syndrome: a case report
We describe a 27-year-old patient with Coffin-Lowry syndrome with severe community pneumonia, septic shock and respiratory failure. We summarize both the mechanical ventilatory assistance and the hospitalization period in the intensive care unit.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 25 5 شماره
صفحات -
تاریخ انتشار 1988