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 3.
The patient at the age of 11 months: (a) microstomia, fixed in an o-shaped position (b) prominent superficial scalp veins, dysplastic auricels, microretrognathia. (c-e) acrocontractures. (f)„rocker bottom“ foot with prominent calcaneus and rounded bottom.