Table 1 Genetically confirmed diagnoses by single-gene analysis (Sanger sequencing).

From: Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis

Syndrome

Gene

Cases

Male/female

Suturea

Familialb

Apert

FGFR2

15

6/9

BC, LCS, MS

0

Muenke

FGFR3

14

7/7

BC, RC

8 (6 index)

Saethre–Chotzen

TWIST1

8

4/4

BC, LC, RC,

6 (4 index)

Crouzon/Pfeiffer/Beare–Stevenson syndrome

FGFR2

5

2/3

BC, BL, BCBL, P, S

1

Crouzon with acanthosis nigricans

FGFR3

3

1/2

BCS, P

0

Craniofrontonasal dysplasia

EFNB1

2

0/2

BC, RC

0

  1. BC bicoronal, BCBL bicoronal and bilambdoid, BCS bicoronal and sagittal, BL bilambdoid, LC left coronal, LCS left coronal and sagittal, MS metopic and sagittal, P pancynostosis, RC right coronal, S sagittal.
  2. aAffected suture: BC, BCBL, BL, BCS, LC, LCS, MS, P, RC, S.
  3. bIndividuals with an affected first- or second-degree relative.
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