PMC9285985_01
(A) Pedigree of the family with inherited OFD1 variant. Black arrow, proband; solid symbol, affect family members; crossed-out symbols subject who has passed away. (B) CT scan showed bronchiectasis with infection and situs inversus. (C) CT scan showed sinusitis. (D) The clubbing fingers and mild streblomicrodactyly of the patient. (E) The fingers of patient's brother. No significant deformity has been found.
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His mother died in a car accident and both his father and mother did not have respiratory symptoms (Figure 1A). His CT examination revealed bronchiectasis, sinusitis, and situs inversus (Figure 1B-C). The patient had clubbing fingers and mild streblomicrodactyly in the distal interphalangeal joint, but no obvious deformity was found in his head and face (Figure 1D-E).