Table 1.

Clinical Features of Families Harboring TCF12 Rearrangements

	Family 1	Family 2	Family 3	Family 4
cDNA position of rearrangement	c.391–5871_1746–1795del	c.1745 + 4562_1978 + 3153del	c.1979–3147_*12–1497del	c.1746–1697_*11 + 65dup
Size of rearrangement (kb)	84.9	8.6	5.4	11.3
Exons involved	7–18	19	20	19 and 20
Type of rearrangement	Deletion	Deletion	Deletion	Duplication
Gender of index patient	Male	Female	Male	Male
Gestational age (weeks)	37+6	42+4	39+4	38
Birth weight (grams)	3,075	3,620	3,365	NA
Cranial suture fusion	RC	BC	All except M	BC
Major craniofacial procedures	Fronto‐supraorbital remodeling @ 10 months	Supraorbital advancement @ 9 months	Fronto‐biparietal remodeling @ 8 months, parieto‐occipital decompression @ 2 years	FOAR @ 10.5 months
Development	Mild learning problems VIQ 82, PIQ 64, GIQ 74	Normal	Normal	Normal
Limbs	Fifth finger camptodactyly	Normal	Normal	Fifth finger clinodactyly
Other major clinical features	Divergent strabismus, recurrent infections, febrile seizures	Myopia, crowding of teeth, divergent growth pattern	Increased ICP	Class II.1 malocclusion, small ears with prominent helical crura
Family history	Mother LC	Sister of father brachycephaly	Negative	Flattened foreheads in maternal half‐brother and his daughter
Previous genetic diagnostics	Karyotyping, FGFR2, FGFR3, TWIST1, TCF12	FGFR2, FGFR3, TWIST1, TCF12	FGFR2, FGFR3, TWIST1	FGFR2, FGFR3, TWIST1, TCF12
Subjects sequenced	II.1, II.2, and III.1	II.1, II.2, II.3, and III.1	II.1, II.2, and III.2	III.1

BC, bicoronal; FOAR, fronto‐orbital advancement and remodeling; GIQ, Global IQ; LC, left coronal; M, metopic; PIQ, performal IQ; RC, right coronal; VIQ, verbal IQ.