Figure 2

Clinical features of DYNC2H1 patients. (A–E) Hallmarks of Jeune asphyxiating thoracic dystrophy (JATD): (A, JATD-5; B, JATD-16) Small thorax due to short ribs; (A, JATD-5, B, JATD-16, C, JATD-5, D, JATD-14) Small ilia with acetabular spurs; (C, JATD-5, D, JATD-14) Shortening of femurs, accompanied by bowing in (D, JATD-14); (E) 3D reconstruction of CT images of patient JATD-4. (F–I) Severity of the rib shortening varies between different patients from different families carrying DYNC2H1 mutations as well as between affected siblings: while patient JATD-5 presents with extremely shortened ribs (F), patient JATD-18 (UCL62.2) is only mildly affected (G). (H, I) Patient JATD-14 (H, UCL80.1) is markably more severely affected than his sister JATD-14 (I, UCL80.2). (J–L) Additional features: (J) scoliosis in JATD-2, (K) syndactyly in JATD-2, (L) ear malformation in JATD-16. (M–Q) Thoracic narrowing becomes less pronounced with increasing patient age. (M) Shows patient JATD-16 at under 5 years; the same patient is shown a few years later in (N) at under 10 years. (O) Patient JATD-3 in his 20s, (P) patient JATD-2 in his late teens, (Q) patient JATD-1 in his mid-20s these cases have less pronounced thoracic phenotypes compared to birth or infancy, as described in the text. Note also that shortening of the upper limbs seems less severe when JATD patients reach adolescence.