Figure 3.

Phenotypes of affected individuals of families 1 and 2. A, Proband of family 1 at age 14 mo. Left, Phocomelia of the upper extremities. Lower extremities are less affected. Upper middle, Lateral view of the head, demonstrating hypoplastic nasal alae and low-set posteriorly rotated simple ears. Lower middle, View with radius and ulna absent, small thumb, and clinodactyly of the fifth finger (figs. 12, 15, and 13 in Herrmann et al. 1969, p. 86; reprinted with permission of the March of Dimes). Upper right, Silvery-blond hair, widely spaced narrow eyes, and hypoplastic nasal alae. Lower right, Proband at age 15 years, with beaked nose, prominent maxilla, ptosis, and blindness of the right eye due to surgical removal of a cavernous hemangioma (figs. 1 and 2 in Feingold 1992, p. 898; reprinted with permission of Wiley-Liss, a subsidiary of John Wiley & Sons). B, Proband of family 2, with high forehead, wide nasal bridge, drooping eyelids, hypoplastic nasal alae, beaked nose, wide short philtrum, thin upper lip, and bilateral facial nerve paralysis. Dorsal view of the hands shows absent thumbs and highly symmetrical contractures of fingers. C, Affected sister of family 2, with similar facial appearance as that of the proband and micrognathia. Palmar view of the hands shows absent thumbs and highly symmetrical contractures. (Panels B and C include fig. 1A and fig. 2A and 2D in Parry et al. 1986, pp. 655 and 658; reprinted with permission of Wiley-Liss, a subsidiary of John Wiley & Sons.)