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. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796

Fig 2. Clinical Phenotypes In IFT74 Patients.

Fig 2

(A, C, G) Narrow thorax and shortened upper extremities in all three affected individuals, most pronounced in 1.II.1. (B-G) Shortened lower extremities in all three individuals with pronounced bowing of the lower legs. (H) Severely shorted extremities and narrow thorax in fetus 3.II.1. (I) Head CT image of patient 1.II.1 showing a fluid filled/mucus blocked sinus (arrow). (J-K) Hematoxylin and eosin-stained kidney biopsy from 1.II.1 showing mild tubular dilatations and a small glomerular cyst. Scale bars are 100 microns. (L-M) Growth curves of patients 1.II.1 and 1.II.2 showing progressive growth retardation with age. (N-P) Severe brachydactyly with shortened metacarpal bones. (Q) Pre-axial polydactyly of the right hand. (R) Pre- and postaxial polydactyly of the right foot and postaxial polydactyly of the left foot. (S) Chest radiograph showing pulmonary infiltrations (arrows). (T) Chest radiograph showing handlebar clavicles (arrow) and shortened horizontal ribs. (U) Pelvis radiograph showing a narrow pelvis with a coxa valga deformity. (V) Chest radiograph showing very short horizontal ribs and handlebar clavicles (arrow).