Table 1

Clinical features and their reported frequencies in SRS. and genetic subgroups of SRS. The percentage of SRS features in two separate groups of SRS patients are listed.3 4 These figures could not be combined as certain clinical conditions were not examined consistently in both sets of patients. These serve as a reference for the frequency of features observed in specific genetic categories of SRS patients mentioned in the text. Where the patient number is small the frequencies are given as fractions, not percentages. Traits either not reported or not evaluated are blank. Non-SRS features apparent in the SRS-like patients with abnormalities of chromosomes 18 and 8 are not included, but discussed in the text

 Clinical feature SRS n=143 SRS n=50 mUPD(7)n=24 r(15)n=2 t(17q25) n=2 Deletion CSH1n=1 18+ mosaic n=1 Deletion (18p11)n=1 Deletion (8q11-13) n=1 Major Low birth weight (<−1 SD) 94% 94% 87.5% 2/2 2/2 1/1 1/1 1/1 1/1 Short stature (<−1 SD) 99% 86% 100% 2/2 2/2 1/1 1/1 0/1 1/1 Triangular face 79% >62% 29% 2/2 2/2 1/1 1/1 Atypical 1/1 Minor Clinodactyly V 68% 56% 37.5% 2/2 2/2 0/1 0/1 1/1 1/1 Relative macrocephaly 64% 70% 71 % 0/2 2/2 1/1 1/1 0/1 0/1 Ear anomalies 53% 21% 0/2 2/2 0/1 1/1 Atypical 1/1 Skeletal asymmetry 51% 34% 45% 0/2 2/2 1/1 1/1 1/1 0/1 Brachydactyly V 48% 25% 0/2 0/2 0/1 0/1 0/1 0/1 Downward slanting corners of mouth 46% 0% 2/2 1/2 1/1 0/1 Atypical 0/1 Muscular hypotrophy/tonia 45% 12.5% 0/2 1/2 0/1 0/1 0/1 0/1 Motor/neuropsychological delay 37% 38% 23% 2/2 0/2 1/1 1/1 1/1 1/1 Irregular spacing of teeth 28% 4% 0/2 0/2 0/1 0/1 1/1 0/1 Simian crease 25% 0% 0/2 0/2 0/1 0/1 0/1 0/1 Squeaky voice 22% 4% 0/2 0/2 0/1 0/1 0/1 0/1 Syndactyly 19% 0% 0/2 1/2 0/1 0/1 1/1 0/1 Café au lait naevi 19% 4% 4% 1/2 0/2 0/1 0/1 1/1 0/1 Early or precocious puberty 13% 0% 0/1 0/1 Genital abnormalities 36% 1/2 0/2 1/2 1/1 1/1 0/1 Speech delay 20% 25% 1/1 0/1 Camptodactyly 22% 1/1 0/1 Feeding difficulties 56% 33% 1/1 1/1 References 3 4 51, 52, 59 19, 20 28, 29 35 13 17 18