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Editor—Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation (IUGR), postnatal short stature, asymmetry of the face, body, and limbs, short and incurved fifth fingers, and a characteristic triangular face with a prominent and bossed forehead, a small lower jaw, and downturned corners of the mouth.1 2 Many other slightly dysmorphic features are seen in SRS patients (table 1) and these have been regarded mostly as confirmatory, not obligatory, for the diagnosis.3-5 Any one feature is not consistently observed in all SRS patients and the expression of features tends to vary greatly among subjects leading to considerable heterogeneity.3 4 Straightforward criteria for the evaluation of the severity of SRS characteristics have not been set and it has been proposed that SRS might in fact comprise different subgroups.4 6 Most SRS cases are sporadic, but different monogenic modes of inheritance have been proposed.7-9Abnormalities of chromosomes 8, 15, 17, and 18 have also been associated with SRS.10-15 View this table: Table 1 Occurrence of SRS features. Categorisation is based on multiple published reports of SRS features, on the general emphasis stated in these reports for inclusion criteria in SRS studies, and on our own observations Maternal uniparental disomy of chromosome 7 (matUPD(7)), the inheritance of both copies of chromosome 7 exclusively from the mother, occurs in approximately 10% of Silver-Russell syndrome (SRS) patients.16-19 Altogether, 21 cases of matUPD(7) have been reported6 16-24 and at least 14 of these have been diagnosed with SRS.6 16-19 All matUPD(7) patients have pre- and postnatal growth retardation, except one case who had short stature only postnatally.23 Paternal uniparental disomy of chromosome 7 has no effect on growth and development.25 It has been suggested that there is at least one imprinted gene influencing growth and development on …