PMC9845400_01
Clinical and genetic analysis of the proband with SCS. (A) Preoperative cranial CT images of the proband, age 3 months. From left to right: Frontal, lateral and axial images. Premature closure of both coronal sutures (blue arrows) is evident which lead to a brachycephalic cranial shape. Large anterior fontanel and superior part of metopic suture are present. Posterior part of sagittal suture and posterior fontanel are also enlarged, with several intrasutural bones. Note the presence of an inter-parietal or Inca bone (red asterisk). Posterior parietal bones and squamous part of occipital bone show thinning, parietal and occipital foramina (white arrow heads). (B) Pedigree of family. M, mutant; N, normal. (C) Alignment of NGS sequences of the proband highlighting the c.-18C>T variant. NGS panel: Average read depth 760X, 99.06% of bases >20X coverage and the variant reads 66:61 (reference:alternative). (D) Chromatograms showing the de novo TWIST1 5' UTR variant, NM_000474.3:c.-18C>T in the proband. NA: Not available for genetic analysis.
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An inter-parietal or Inca bone was also evident along with parietal and occipital foramina (Figure 1A).