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 | |
#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 | ||
#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 | ||
#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 |