نتایج جستجو برای: overlap syndrome
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Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article, we report the overlap of neurofibromatosis-1 with Turner and Klinefelter syndromes. Thus, these disorders might overlap within the same patie...
Fathers and mothers of Down's syndrome cases show dermal microsymptoms when a large series of parents are compared to the general population. A Walker dermal index score in the overlap range (-2 99 to + 3 '00) is more likely to occur in fathers of age-dependent Down's syndrome cases (mean paternal age 40, range 25 to 54 years) and in Down's syndrome mothers than in the general population. The r...
Short rib-polydactyly syndromes (SRPS) are a heterogeneous group of recessively inherited lethal skeletal dysplasias. Four types have been recognised. However, overlap in the clinical and radiological features of the four types has led to difficulties in distinguishing between them. The congenital infection-like syndrome is an autosomal recessive syndrome characterised by mental retardation, mi...
The overlap syndrome of functional dyspepsia and irritable bowel syndrome (FD-IBS) is very common and difficult to treat. There are many risk factors of FD-IBS. Mental illness of FD-IBS patients is more serious. Functional dyspepsia and irritable bowel syndrome have some similarities in the aspects of pathophysiology, pathogenesis, and treatment. We should pay attention to two aspects of the tr...
Mutations on the LMNA gene are responsible for an heterogeneous group of diseases. Overlapping syndromes related to LMNA gene alterations have been extensively reported. Study scope is to perform a systematic analysis of the overlapping syndromes so far described and to try to correlate the clinical features to the associated genetic alterations. We evaluated all the dominant overlapping syndro...
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