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Silver‐Russell syndrome and exclusion of uniparental disomy
Clinical Genetics, 1996 Recently maternal uniparental disomy for the entire chromosome 7 was described in three of 25 Silver-Russell syndrome sporadic cases, yet the etiology of the remaining cases is unclear.
Lisa G Shaffer
exaly +2 more sources
Silver-Russell syndrome as a cause for early intrauterine growth restriction
Prenatal Diagnosis, 2005 The diagnosis of Silver-Russell syndrome is based on the characteristic growth restriction and the presence of typical dysmorphic features. We present the prenatal and postnatal findings of a case that was treated at our perinatal center.
Birgit Seelbach-Göbel
exaly +2 more sources
American Journal of Medical Genetics, Part A, 2016 Russell-Silver syndrome is a heterogeneous disorder characterized by intrauterine growth retardation, postnatal growth deficiency, characteristic facial appearance, and other variable features.
Cheryl Cytrynbaum +2 more
exaly +2 more sources
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Genetics of Silver-Russell Syndrome
Hormone Research in Paediatrics, 1998The Silver-Russell syndrome (SRS) is generally sporadic, but with sufficient reported cases of dominant and recessive patterns of inheritance to suggest a genetic cause in some cases, at least. No consistent cytogenetic abnormalities have been found although some features of the syndrome have been reported to be associated with structural abnormalities
E L, Wakeling +6 more
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Cleft Hand in Silver–Russell Syndrome
Journal of Hand Surgery, 1988A case of Silver-Russell Syndrome with a typical cleft hand is presented. The association of cleft hand with this syndrome has never been reported before.
S, Mahmud +4 more
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Ugeskrift for laeger, 1990
Silver-Russell's syndrome is a condition characterized by pre- and postnatal growth retardation, a triangular face, clinodactyly of the 5th finger, café au lait patches and hemihypertrophy. The majority of patients have normal psychomotor development. A case of Silver-Russell's syndrome complicated by perinatal asphyxia is presented.
Balslev, T, Hansen, U S
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Silver-Russell's syndrome is a condition characterized by pre- and postnatal growth retardation, a triangular face, clinodactyly of the 5th finger, café au lait patches and hemihypertrophy. The majority of patients have normal psychomotor development. A case of Silver-Russell's syndrome complicated by perinatal asphyxia is presented.
Balslev, T, Hansen, U S
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Acta paediatrica Belgica, 1977
Sir .—Marks and Bergeson ( Am J Dis Child 131:447,1977) have reviewed the literature on the Silver and Russell syndromes and conclude that the reported cases are variants of the same syndrome. Since I have been a vocal advocate of the opposite point of view, 1,2 it seems only fair that I should point out that Cumming et al 3 have effectively spiked my ...
M, Vanderschueren-Lodeweyckx +3 more
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Sir .—Marks and Bergeson ( Am J Dis Child 131:447,1977) have reviewed the literature on the Silver and Russell syndromes and conclude that the reported cases are variants of the same syndrome. Since I have been a vocal advocate of the opposite point of view, 1,2 it seems only fair that I should point out that Cumming et al 3 have effectively spiked my ...
M, Vanderschueren-Lodeweyckx +3 more
openaire +3 more sources
1996
The exact incidence of this syndrome is not known, but cases have been reported from many parts of the world. All races and ethnic groups seem to be susceptible and both boys and girls seem to be affected equally. (However, there has been an X-linked Silver syndrome described, which has similar characteristics, but which, due to the mode of inheritance,
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The exact incidence of this syndrome is not known, but cases have been reported from many parts of the world. All races and ethnic groups seem to be susceptible and both boys and girls seem to be affected equally. (However, there has been an X-linked Silver syndrome described, which has similar characteristics, but which, due to the mode of inheritance,
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Diagnostic Proceeding in Silver-Russell Syndrome
Molecular Diagnosis, 2005Silver-Russell syndrome (SRS) describes a uniform malformation syndrome characterized by pre- and postnatal growth restriction (10% of SRS patients.
Thomas, Eggermann +6 more
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Silver-Russell Syndrome With Unusual Findings
Pediatrics, 1987In 1953, Silver et al1 described a syndrome of short stature and low birth weight with hemihypertrophy and abnormal sexual development. Independently, in 1954, Russell2 described a condition with similar findings, but his description emphasized disproportionately short arms, maternal difficulty during pregnancy, and craniofacial dysostosis.
K K, Hansen +3 more
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