Research Paper Volume 5, Issue 6 pp 445—459
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C
Figure 2.
Phenotypic changes in the course of disease progression at age of 4 months (a) and age of 11 months (b). Chest x-rays were performed at age of 4 (c) and 11 months (d). Normal skeletal findings at age of 4 months are displayed. Missing of both claviculae at age of 11 months, residual bone fragments are denoted by arrows. Deformation and narrowing of both humeri at age of 11 months are marked by arrowheads.