From: Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis
Analysis | Patient | Phenotype | Sex | Age (m) | Mutation | Fused Suture | Fusing Suture | Unfused Suture |
---|---|---|---|---|---|---|---|---|
Microarray | #42 | Apert syndrome | M | 7 | FGFR2 Ser252Trp | Coronala Lambdoida | Metopica | Â |
 | #36 | Unicoronal synostosis | M | 3 | No FGFR or TWIST1 |  | Coronala | Coronala Sagittal |
 | #46 | Sagittal synostosis | M | 5 | No FGFR or TWIST1 | Sagittal |  | Coronal Lambdoida Metopica |
 | #50 | Sagittal synostosis | M | 6 | No FGFR or TWIST1 | Sagittal |  | Coronal |
 | #58 | Sagittal synostosis | M | 7 | No FGFR or TWIST1 | Sagittala | Sagittalb | Sagittala Coronal Lambdoida |
Validation | #47 | Apert syndrome | F | 38 | FGFR2 Pro253Arg | Metopic | Â | Â |
 | #85 | Apert syndrome | F | 40 | FGFR2 Ser252Trp | Sagittal | Metopic |  |
 | #90 | Apert syndrome | F | 4 | FGFR2 Pro253Arg | Coronal | Coronalc | Sagittal Metopic |
 | #61 | Apert syndrome | M | 20 | FGFR2 Ser252Trp |  | Coronal | Coronal |
 | #92 | Muenke syndrome | F | 6 | FGFR3 Pro250Arg |  |  | Coronal |
 | #104 | Saethre-Chotzen syndrome | M | 14 | TWIST1 c.256_276dup | Sagittal Metopic |  |  |
 | #49 | Metopic synostosis | M | 10 | No FGFR or TWIST1 | Metopic |  |  |
 | #60 | Sagittal synostosis | F | 9 | No FGFR or TWIST1 | Sagittal | Sagittal |  |
 | #63 | Sagittal synostosis | M | 10 | No FGFR or TWIST1 | Sagittal | Sagittal | Lambdoid |
 | #72 | Lambdoid synostosis | M | 26 | No FGFR or TWIST1 | Lambdoid |  |  |
 | #91 | Sagittal synostosis | F | 5 | No FGFR or TWIST1 |  |  | Metopic |
 | #94 | Metopic synostosis | F | 9 | No FGFR or TWIST1 | Metopic | Metopic | Sagittal |
 | #95 | Unicoronal synostosis | M | 5 | No FGFR or TWIST1 | Coronal |  |  |
 | #41 | Normal – Tessier Cleft | F | 91 | Not tested |  |  | Metopic |
 | #69 | Normal – hydrocephalus | F | 4 | Not tested |  |  | Lambdoid |
 | #73 | Normal – cerebellar tumour | M | 9 | Not tested |  |  | Coronal |
 | #81 | Normal – hydrocephalus | F | 2 | Not tested |  |  | Lambdoid |
 | #87 | Normal – cerebellar tumour | M | 57 | Not tested |  |  | Coronal |
 | #89 | Normal – hydrocephalus | M | 1 day | Not tested |  |  | Lambdoid |
Histology | #3 | Apert syndrome | M | 4 | FGFR2 Ser252Trp | Lambdoid | Â | Â |
 | #5 | Sagittal synostosis | M | 3 | No FGFR or TWIST1 | Sagittal |  |  |
 | #80 | Metopic synostosis | M | 6 | No FGFR or TWIST1 |  |  | Coronal Sagittal |
 | #83 | Sagittal synostosis | M | 6 | No FGFR or TWIST1 |  |  | Lambdoid (x2) Coronal |
 | #84 | Unicoronal synostosis | F | 7 | No FGFR or TWIST1 | Coronal |  | Sagittal |