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

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

Clinical findings	SRS^a (NH-CSS)	UPD(7) mat cases^b	mosaic UPD(7) mat cases^c 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	+

Clinical findings: +, present; −, absent, SGA small for gestational age, BL birth length, BW birth weight
NH-CSS netchine-harbison SRS clinical scoring system
^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]

ISSN: 1755-8166