Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case
Table 2
Netchine–Harbison clinical scoring system (NH-CSS) for RSS (2015).
Clinical features
Detail
(1) Prenatal growth retardation
Birth length and/or weight ≤−2SDS
(2) Post natal growth retardation
Height ≤−2SDS
(3) Relative macrocephaly at birth
Head circumference at birth at least 1.5 SDS above birth weight and/or length
(4) Protruding forehead
In toddlers (age 1–3 years)
(5) Body asymmetry
Defined as a leg length discrepancy (LLD) of ≥0.5 cm or arm asymmetry or LLD <0.5 cm with at least two other asymmetrical body parts (with one being a non-face part)
