First Italian experience using the automated craniofacial gestalt analysis on a cohort of pediatric patients with multiple anomaly syndromes

Table 1 Multiple anomaly syndromes considered in the present study

Group A	Patients	Syndrome	Genetic testing	Automated facial gestalt analysis
	Patients	Syndrome	Genetic testing	top-1 match (age)	within top-10 matches (age)	within top-30 matches (age)	top-0 match (age)
	1	CLS	MA	2 y, 4 y
	2	KdVS	GA	3 y, 7 y
	3	CSS1	MA	8 y, 13 y
	4	Chromosome 9p deletion	CA		9 y		12 y
	5	MCPH1		4 y	3 m
	6	KBGS	MA	5 y, 7 y
	7	NS		14 m, 2 y
	8	WHSUS		5 y	9 y
Group B	Patients	Syndrome	Genetic testing	Automated facial gestalt analysis
	Patients	Syndrome	Genetic testing	top-1 match (age)	within top-10 matches (age)	within top-30 matches (age)	top-0 match (age)
	1	CLS	MA	11 y
	2	CSS1*			20 m
	3	CSS1*	GA	20 m
	4	TRPS1		14 y
	5	MNKES	MA	4 y
	6	HRTFDS					2 y
	7	KLEFS1	GA				10 y
	8	BBS1		4 y
	9	BWS		2 y
	10	KABUK1	MA	12 m
	11	MFDGA		5 y

Abbreviations: *siblings; y Years, m Months, MA Molecular analysis, GA Genomic analysis, CA Chromosome analysis, BBS1 Bardet-Biedl syndrome 1, BWS Beckwith-Wiedemann syndrome, CLS Coffin-Lowry syndrome, CSS1 Coffin-Siris syndrome 1, KABUK1 Kabuki syndrome 1, KBGS KBG syndrome, KdVS Koolen-de Vries syndrome, KLEFS1 Kleefstra syndrome 1, HRTFDS Hartsfield syndrome, MCPH1 Autosomal recessive microcephaly 1, MFDGA Mandibulofacial dysostosis with microcephaly, MNKES Muenke syndrome, NS Noonan syndrome, TRPS1 Trichorhinophalangeal syndrome type 1, WHSUS White-Sutton syndrome

ISSN: 1824-7288