PMC9846794_01
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Physical features. The physical features of the patient are shown in panels (A-D). (A, B) There are no facial abnormalities, such as cleft palate, low-set auricles, or small mouth; however, the nasal root is flat. (C) brachydactyly was shown. (D) The patient's height and arm span were 126.2 cm, and 111.0 cm. Mild disproportionate shortening and short limbs were shown.
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No obvious prominent forehead was observed ( Figure 1 ).
Radiological findings. (A) Head CT shows coarse calcification of the capsule. (B) Preoperative image of lumbar spondylolisthesis at age 48. Disc space irregularity is seen between L4 and L5. (C, D) Cortical thickening of the bones, particularly of the (C) fingers and lower leg bones (i.e, femur, tibia, and fibula). (D) Medullary stenosis of bones is also observed.
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Head computed tomography (CT) showed coarse calcification of the capsule, which is thought to be a manifestation of chronic hypoparathyroidism ( Figure 2A ). Radiography showed disc space irregularity between L4 and L5 ( Figure 2B ). A skeletal survey showed cortical thickening and medullary stenosis of the bones ( Figures 2C, D ).
PMC9846794_04
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Sanger sequencing of the FAM111A gene. c.1706G>A (p.R569H) variants were detected. (A) This patient and (B) wild type (healthy subject).
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This resulted in an amino acid substitution of histidine for arginine at codon 569, where the hotspot variant [NP_001135991.1:p.(Arg569His)] causing KCS2 was identified ( Figure 3 ).