Clinical and genetic diagnosis and management of Silver-Russell syndrome: Report of four cases

Table 1 Summary of the Netchine-Harbison clinical scoring system and characteristics of each case with Silver-Russell syndrome

Clinical criteria and individual characteristics	Case 1	Case 2	Case 3	Case 4
SGA (birth weight and/or birth length)	None	Yes	Yes	-1.22 (BW)
Postnatal growth failure	Yes	Yes	Yes	Yes
Relative macrocephaly at birth	None	NA	Yes	Yes
Protruding forehead	Yes	Yes	Yes	Yes
Body asymmetry	None	None	Yes	Yes
Feeding difficulties and/or low BMI	Yes	Yes	Yes	Yes
Age at diagnosis	3 years	22 months	3 years	15 months
Biological sex	Female	Male	Male	Male
Body weight, kg	10.5	6.3	9.3	6.9
WAz1	-2.34	-5.05	-3.90	-3.57
Stature, cm	84.8	69.0	93.0	68.5
HAz1	-2.83	-5.53	-1.56	-3.88
BMI, kg/m2	14.6	13.0	10.8	14.4
BMIz1	-0.62	-2.74	-4.55	-1.97
Pregnancy	Singleton	Twin	Singleton	Singleton
FGR	None	Yes	Yes	Yes (early)
Delivery	Natural	C-section	C-section	C-section
Gestational age at birth, weeks	37 + 3/7	37	33 + 5/7	30 + 5/7
Birth weight, g	2440	1980	1300	1110
Birth length, cm	48	43	38	36
Head circumference at birth, cm	33	NA	30	29
Speech delay	Yes	None	None	None
Psychomotor delay	None	Yes	None	None

¹Calculated using the World Health Organization Anthro software[10], based on the World Health Organization growth charts and standards[9].

SGA: Small-for-gestational age; BW: Body weight; NA: Not available; BMI: Body mass index; WAz: Weight-for-age z-score; HAz: Height-for-age z-score; BMIz: Body mass index z-score; FGR: Fetal growth restriction; C-section: Cesarean section.