Comprehensive genetic evaluation of Bulgarian children with syndromic craniosynostosis

Patient No	Age	Sex	Craniosynostosis	Dysmorphic features	Psychomotor development	IQ	Additional personal and familial findings
2	3 years	male	metopic	craniofacial	delayed	72	ASD; mother with pes planus
8	4 years	female	coronal	craniofacial, short neck, thoracic hyperkyphosis, brachydactyly	Normal then regress	74	psychomotor regress, gastrointestinal symptoms
22	2 years	male	sagittal	craniofacial; macro-dolichocephaly; single transverse palmar crease on both hands; umbilical hernia	delayed	21	unilateral hydronephrosis; seizures; cortical atrophy, right fronto-parietal porencephaly and postischemic defects
25	5 months	male	coronal and sagittal	mild craniofacial; upper limb rhizomelia	delayed	60	anaemia, recurrent respiratory infections
29	5 years	female	lambdoid	craniofacial	delayed	58	Dandy-Walker occipital cyst; maternal karyotype 46,ХХ,t(2;7)(q14;q35)
34	4 years	male	metopic	craniofacial	delayed	64	mitral valve insufficiency; corpus callosum hypoplasia

Patient No	Chromosome analysis	MLPA findings	aCGH findings – ISCN Notation and size	Class	Candidate genes
2	46,XY	normal	arr[hg19] 1q21.1 (144440748x2, 144510920- 146188485x3, 146290655x2) (1.85Mb)	pathogenic	-
8	46,XX	normal	arr[hg19] 14q32.33(105524898x2, 105609511- 105787438x0, 105845682x2) (177.93Kb)	likely pathogenic	-
22	46,XY	del 5q35.3 (NSD1)	arr[hg19] 5q35.2 (175,470,501- 177,136,261x1) (1.66 Мb)	pathogenic	FGFR4
25	46,XY	normal	arr[hg19] 1q12q21.2(120322008x2, 142513049- 147134234x3, 147203277x2) (4.62 Mb)	pathogenic	-
29	46,ХХ,t(2;7)(q14;q35)	dupl 2p16.1	arr[hg19] 2p22.3p16.1(36033514x2, 36095582- 61287377x3, 61369298x2) (25.19 Mb)	pathogenic	SIX2
34	46,XY	del 4q(TRIML2)	arr[hg19] 1p22.1 (92258725x2, 92326818- 92705290x3, 92767467x2) (378.47 Kb)	likely pathogenic	TGFBR3