PMC9326163_01
Appearance and MRI features of the proband. (A,B) Congenital contractures of the face (A) and limbs (B). (C) Deformity of the foot. (D) abnormally broadening of bilateral temporal extracranial space. (E) Subdural effusion in the left frontal area.
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F1
H-shaped chin dimpling, deep nasolabial folds, and full cheeks were observed (Figure 1A). He also had an unusually short neck, adducted thumbs, clinodactyly of fingers, transverse palmar areas, elbow contracture, and toe deformity (Figures 1B,C). The MRI revealed that he has abnormally broadening bilateral temporal extracranial space (Figure 1D), left frontal subdural effusion (Figure 1E), and cyst in the right choroid plexus (3*2 mm).
PMC9326163_02
De novo NALCN variant of the proband. (A) The pedigree of the CLIFAHDD family. (B) Sanger sequencing result shows c.4300A>G in NALCN gene.
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F2
S2). Sanger sequencing confirmed that the variant was heterozygous in the affected child but was absent from his parents (Figure 2).