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. Author manuscript; available in PMC: 2011 Nov 1.
Published in final edited form as: Am J Med Genet A. 2010 Nov;152A(11):2703–2710. doi: 10.1002/ajmg.a.33664

Figure 1.

Figure 1

Clinical Features of Patient MAD4700.3. A, The patient has a small nose with telangiectasias, prominent cheeks, prominent superficialveins, low-set ears, micrognathia, and slight double chin. B, Bulbous appearance of distal fingers consistent with acro-osteolysis. C, Radiograph of the hand at 13 months showing irregularity of the tufts of all terminal phalanges, consistent with acro-osteolysis. D, Lateral view of the patient showing near normal body fat distribution and lack of overt lipodystrophy. E, Dry, straight, bright red hair with areas of hair thinning and alopecia particularly on the back of scalp and on the left parietal and frontal region. F, Computerized tomography of the head at 7 months with 3-Dreformations showing multiple Wormian bones in both lambdoid sutures. G, Mottled pigmentation in the abdomen and inguinal areas.