PMC8280522_01
Pedigree chart of the family with FMD1. The asterisk indicates people tested for the FLNA pathogenic variant. The affected members are indicated by gray shading. Symbols divided into halves indicate heterozygous carriers of FMD1. The arrow indicates the proband.
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F1
His parents and sister show no obvious anomalies (Figure 1).
X-ray showing (A) scoliosis of the whole spine; (B) mild bowing of the tibia and (C) humerus; (D) flexion contracture of the left fifth proximal phalangeal joint; (E) hyperostosis, irregular sclerosis, frontal bone thickening, and protrusion; and (F) craniosynostosis.
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F2
Three-dimensional (3D) CT of skull demonstrated premature closure of all cranial sutures (pansynostosis) (Figure 2).
Brain and whole-spine magnetic resonance imaging and computed tomography showing (A,B) Chiari I malformation with extensive hydrosyringomyelia from the C1 to T12 levels and (C) C2 spina bifida.
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F3
Brain and whole-spine magnetic resonance imaging (MRI) revealed cerebellar tonsillar inferior herniation, which clinically translates to CM1, with extensive hydrosyringomyelia from the C1 to T12 levels and C2 spina bifida occulta (Figure 3).
Reverse DNA sequencing chromatogram of the patients and his family members.
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F4
FMD1, was detected. Family gene analysis revealed that his mother, aunt, and sister (who had no symptoms) carried the same heterozygous FLNA variant and that his maternal male cousin with similar facial dysmorphism had the same hemizygous FLNA variant as the proband. Finally, the patient was diagnosed with FMD1 inherited from the asymptomatic maternal carrier (Figure 4).