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)
t(17q25) n=2 Deletion CSH1
18+ mosaic n=1 Deletion (18p11)
Deletion (8q11-13) n=1
Low birth weight (<−1 SD)94%94%87.5%2/22/21/11/11/11/1
Short stature (<−1 SD)99%86%100%2/22/21/11/10/11/1
Triangular face79%>62%29%2/22/21/11/1Atypical1/1
Clinodactyly V68%56%37.5%2/22/20/10/11/11/1
Relative macrocephaly64%70%71 %0/22/21/11/10/10/1
Ear anomalies53%21%0/22/20/11/1Atypical1/1
Skeletal asymmetry51%34%45%0/22/21/11/11/10/1
Brachydactyly V48%25%0/20/20/10/10/10/1
Downward slanting corners of mouth46%0%2/21/21/10/1Atypical0/1
Muscular hypotrophy/tonia45%12.5%0/21/20/10/10/10/1
Motor/neuropsychological delay37%38%23%2/20/21/11/11/11/1
Irregular spacing of teeth28%4%0/20/20/10/11/10/1
Simian crease25%0%0/20/20/10/10/10/1
Squeaky voice22%4%0/20/20/10/10/10/1
Café au lait naevi19%4%4%1/20/20/10/11/10/1
Early or precocious puberty13%0%0/10/1
Genital abnormalities36%1/20/21/21/11/10/1
Speech delay20%25%1/10/1
Feeding difficulties56%33%1/11/1
References3451, 52, 5919, 2028, 2935131718