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a Child Health
Directorate, Northampton General Hospital NHS Trust, Cliftonville,
Northampton NN1 5BD, UK, b Biochemistry, Endocrinology, and Metabolism
Unit, Institute of Child Health, University College London, 30 Guilford
Street, London WC1N 1EH, UK, c The Kennedy-Galton Centre, North West Thames
Regional Genetic Service, Level 8V, Northwick Park Hospital, Watford
Road, Harrow HA1 3UJ, UK, d Department
of Clinical Genetics, Leicester Royal Infirmary, Leicester LE1 5WW, UK
Correspondence to: Dr Price.
Revised version received 28 June 1999;
Accepted for publication 5 July 1999
The Silver-Russell syndrome (SRS) is characterised by severe
intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism and asymmetry are considered typical features of the syndrome, although
the range of phenotypic variance is unknown. Fifty seven subjects
varying in age from 0.84 to 35.01 years, in whom the diagnosis of SRS
had been considered definite or likely, were re-evaluated in a combined
clinical and molecular study by a single observer (SMP).
In 50 patients the clinical findings complied with a very
broad definition of SRS. Notable additional findings included
generalised camptodactyly seen in 11 (22%), many with distal
arthrogryposis. Thirteen of the 25 males required genital surgery for
conditions including hypospadias and inguinal hernia.
Fourteen (36.8%) subjects above school age have received a
statement of special educational needs.
Molecular genetic analysis was performed in 42 subjects and
has identified maternal uniparental disomy of chromosome 7 in four. The
phenotype was generally milder with birth weights for one patient above
and three below 
2 SD from the mean. Two children had classical
facial dysmorphic features, and two had a milder facial phenotype. Of
relevance to the possible molecular mechanism underlying this
condition, none of the four disomic patients had significant asymmetry.
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