Skip to main content
. 2014 Aug 8;124(9):4028–4038. doi: 10.1172/JCI73264

Figure 1. A syndrome of primordial dwarfism and extreme insulin resistance associated with compound heterozygous NSMCE2/MMS21 frameshift mutations.

Figure 1

(A–G) P1 at (A) 4 months, (B) 2 years, (C) 12 years, and (D) 24 years of age. (E) Profile at 12 years showing prominent midface and small lower jaw. (F) Severe axillary acanthosis nigricans with skin tags. (G) Severe acanthosis nigricans on the lateral neck. (H) Pedigree diagram for P1 with adult heights, where available, shown in meters. NSMCE2 genotypes are shown as WT, 116fs (p.Ser116Leufs*18), and 234fs (p.Ala234Glufs*4). (I–K) P2 shown at 27 years old. (I) Whole-body appearance illustrating dwarfism and paucity of adipose tissue and muscle. (J) Profile showing prominent midface and small lower jaw. (K) Detail of arm at antecubital fossa showing severe acanthosis nigricans. (L) Pedigree diagram for P2. Written, informed consent was obtained from patients or their families for publication of these images.