Does Bardet-Biedl syndrome have a characteristic face?: Figure 1

Bardet-Biedl syndrome (BBS) (MIM 209900) is an autosomal recessive disorder with a wide spectrum of clinical manifestations. The generally accepted features of the BBS as a sepa-rate disorder from Laurence-Moon syndrome are retinal dystrophy, obesity, mental retardation, polydactyly, hypogenitalism, and renal anomalies. 1 Recently, Beales et al 2 presented Figure 1 Facial appearance of adult patients with Bardet-Biedl syndrome. On front view, note the wide forehead, mild downward slanting palpebral fissures, large nose, a small mouth with a thin upper lip and slight everted lower lip, and a prominent mandible. On lateral view, however, clear rethrognathia is shown. (A) RP-446-J, (B) RP-129-R, (C) RP-63-I, (D) RP-499-JL, (E) RP-357-D, (F) RP-129-JL, (G) RP-496-V.