Table 1

Summary of the clinical features in 10 patients with a Russell–Silver-like phenotype

PatientBirth weight in kg (centile)OFCFailure to thriveHyperpigmentationShort statureLow growth hormoneHypoglycaemicMosaic FANK cell deficiency
P1 III:112.38 (0.4th−2nd)NA+++UK+NT
P1 IV:43.09 (25th)<3rd centile++++++NT
P1 IV:92.64 (2nd)3rd centile+++UKUKUnclear+ (3%)
P1 IV:102.58 (2nd)NA+++UKUKUnclear+ (2%)
P1 IV:121.57 (9th)9th centileUK++UKUKNTNT
P2 IV:12.38 (0.4th−2nd)NA+++UKUKUKNT
P2 IV:101.73 (<0.4th)NA+UK+UKUK++ (1%)
P2 IV:111.64 (0.4th−2nd)<3rd centile+UK+UKUK++ (2%)
P2 IV:141.84 (<0.4th)<3rd centile+++++++ (<1%)
P3 II:11.56 (<0.4th)<3rd centile++++ (5%)
  • Clinical characteristics of 10 patients from three unrelated Irish Traveller families with a novel syndrome. Affected individuals were diagnosed as having mosaic Fanconi's anaemia (FA), natural killer (NK) cell deficiency (normal NK cell levels 9–16%) and familial glucocorticoid deficiency (FGD). Individuals from pedigrees 1, 2 and 3 are represented as P1, P2 and P3, respectively. The birth weight centiles are provided in parentheses.

  • +, present; –, absent; NA, not available; NT, not tested; OFC, occipitofrontal circumference; UK, unknown.