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

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 …