Figure 1.

Pedigrees and Photos of Affected Family Members

(A) Pedigrees of Norwegian family 1 and German family 2. Filled symbols represent affected family members, and open symbols represent healthy individuals. DNA from subject I-1 of family 1 was unavailable for testing. The five other affected family members were investigated and had the mutation. Healthy subjects II-3 and III-1 of family 1 and subject III-1 of family 2 did not have the mutation. Circular symbols represent females, and squares represent males. Arrows represent the probands of each family. Stars indicate those individuals from whom DNA was available.

(B) The photos reveal the key clinical signs. Partial lipodystrophy is especially noticeable in the face and the buttocks, and dysmorphic features, including a progeroid face with hypotrichosis (thin hair), frontal bossing, wide and deep-set eyes, thin ala nasi, a beaked nose, downturned lateral corners of the mouth, and large ears, are evident. Red arrows point to the typical features. Photos are printed with permission from John Wiley & Sons¹¹ and Wolters Kluwer Health.¹²