Table 2.

Netchine–Harbison (NHS) criteria and genetic analysis performed in 6 patients with clinical diagnosis of SRS

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6
NHS criteria (yes/no):
SGA	Yes	Yes	Yes	Yes	Yes	Yes
Postnatal growth retardation	Yes	Yes	Yes	Yes	Yes	Yes
Relative macrocephaly at birth	No	Yes	No	No	No	Yes
Protruding forehead	Yes	Yes	Yes	Yes	Yes	Yes
Feeding difficulties and/or BMI ≤ −2 SDS	Yes	Yes	Yes	Yes	Yes	Yes
Body asymmetry	No	No	No	No	No	No
Genetic analysis (performed yes/no):
Molecular testing 11p15 and UPD(7)mat	Yes	Yes	Yes	Yes	Yes	Yes
Chromosome microarray analysis	Yes	Yes	Yes	Yes	Yes	Yes
Multilocus methylation and CNV analysisa	Yes	Yes	No	Yes	No	Yes
NGS short stature-related genesb	Yes	Yes	Yes	Yes	Yes	No
Face2Gene result:
Age at enrollment (years)	3	14.4	9.6	6.8	13.3	2.8
Position SRS diagnosisc	7	2	1	No top 10	No top 10	1
Gestalt level	Low	Low	Low	-	-	Medium

SGA small for gestational age

^aMethylation and CNV analysis of chromosome 6, 7, 11, 14, 15, 19, and 20

^bNext-generation sequencing of 18 short stature-related genes including HMGA2

^cFace2Gene ranks a list of syndromes from the most to the least likely for each picture analyzed. The numbers in the table indicate the position of SRS in this list. For each syndrome, the gestalt similarity with suggested syndromes is estimated and divided into three different levels of probability (low, medium, and high)