Silver - Russell syndrome . Part II
نویسنده
چکیده
Features of the Silver-Russell syndrome (SRS) may overlap with other entities characterized by intrauterine growth restriction, making clinical diagnosis often ambiguous. Numerous scoring systems have been continuously modified, based on anthropometric parameters, dysmorphic features and health issues, including growth and gastrointestinal disturbances. Clinical criteria serve for screening patients for further genetic tests. The latter include tests for analyzing DNA methylation of 11p15 loci and multilocus methylation/imprinting defects (MLMD/MLID). Other techniques useful for SRS diagnosis include analysis for maternal uniparental disomy (UPD(7)mat) and molecular karyotypying if submicroscopic imbalances are suspected. The recurrence risk of SRS within a family is generally estimated low; rare familial cases depend on influence of additional genetic mechanisms. Children with SRS should be under multidisciplinary care. Failure to thrive or gastroesophageal reflux require careful estimation of caloric intake and composition of foods by a gastroenterologist and a nutritionist. Growth and puberty should be followed by an endocrinologist, and treatment with recombinant or biosimilar growth hormone is available for children with SRS. Speech and physiotherapists, psychologists and neurologists are involved in management of psychomotor development. Studies in genetically confirmed cohorts of children with SRS are necessary to evaluate long-term developmental outcome and metabolic sequelae, particularly carbohydrate disturbances in this group of patients.
منابع مشابه
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver–Russell syndrome
A Patient with Temple Syndrome Satisfying the Clinical Diagnostic Criteria of Silver–Russell Syndrome Masahide Goto, Masayo Kagami,* Gen Nishimura, and Takanori Yamagata Department of Pediatrics, Kitaibaraki Municipal General Hospital, Kitaibaraki, Japan Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan Department of Molecular Endocrinology, National Research Institute for C...
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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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A 15-year-old male boy with hemihypertrophy (left side) of the body was admitted in the hospital with the history of repeated attacks of convulsion. The patient was diagnosed as Silver-Russell syndrome on clinical ground. Silver-Russell syndrome (SRS) is a very rare genetic disorder that appears no later than early childhood. This is usually characterized by asymmetry in the size of the two hal...
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Since the initial report by Silver et al (1953), more than 50 examples of the Russell-Silver syndrome have been reported. Unilateral congenital asymmetry of the extremities has been considered one of the major features of this disorder (Silver, 1964). We recently observed a child with otherwise typical features of the Russell-Silver syndrome who had enlargement of the right hand and of the left...
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