Severe Silver-Russell syndrome.
نویسندگان
چکیده
Three children are described with severe Silver-Russell syndrome. Major medical problems occurred in the first two years of life in all three. Silver-Russell syndrome should be considered in the differential diagnosis of children with severe pre- and postnatal growth deficiency.
منابع مشابه
Russell–Silver Syndrome Presenting as Early Asymmetric IUGR
We report a case of severe intrauterine growth restriction (IUGR) which was diagnosed as Russell–Silver syndrome (RSS) postnatally. RSS (also known as Silver–Russell syndrome) is one of more than 300 recognised forms of genetic disorder that leads to short stature. Uniparental disomy for chromosome 7 (UPD7), i.e. inheriting two copies of chromosome 7 from the mother, and a change in methylation...
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An adult female with typical features of Silver-Russell dwarfism gave birth to a viable infant. Despite the abnormalities in sexual development that may be associated with the Silver-Russell syndrome, fertility is not necessarily impaired, at least in females. The growth and development of children with the Silver-Russell syndrome have been studied (Silver, 1964; Tanner et al., 1975). There is,...
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INTRODUCTION Silver-Russell syndrome (SRS; also know as Russell-Silver syndrome) is a heterogeneous syndrome which is characterised by severe intrauterine and postnatal growth retardation and typical dysmorphic features. Recently, the first SRS patients with (epi)genetic mutations in 11p15 affecting the telomeric imprinting domain have been identified. Interestingly, opposite mutations are asso...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 26 7 شماره
صفحات -
تاریخ انتشار 1989