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Table 1 Phenotypic comparison of typical SRS cases and SRS due to UPD(7) mat

From: Mosaic UPD(7q)mat in a patient with silver Russell syndrome

Clinical findings SRSa (NH-CSS) UPD(7) mat casesb mosaic UPD(7) mat casesc n = 5 Our patient
Relative macrocephaly + 61/77(79.2%) 3 +
SGA, BL and/or BW ≤ −2SD + 53/86(61.6%) 5 +
Asymmetry + 30/77(39.0%) 1
Feeding difficulties + 40/86(46.5%) 2
Retarded bone age + 24/77(31.2%) 1 +
Clinodactyly V digits 75% 49/86(57.0%) 3 +
Triangular face 94% 24/86(28.0%) 3 +
prominent forehead + 53/86(61.6%) 3 +
Teeth anomalies 37% 14/77(18.2%) 1 +
Low set ears 49% 16/68(23.5%) 2
 small chin 62% 10/86(11.6%) 1 +
  1. Clinical findings: +, present; −, absent, SGA small for gestational age, BL birth length, BW birth weight
  2. NH-CSS netchine-harbison SRS clinical scoring system
  3. adata from Wakeling et al. [16], bdata from Kotzot, D. [34], Hannula et al. [35] and Fuke et al. [36], ccases from Miozzo et al. [21], Bilimoria et al. [20], Flori et al. [22], Reboul et al. [14], and Tomoko et al. [23]