Figure 2.

Corneal Thinning without Rupture in BCS-002

(A) the pedigree of family BCS-002. The circles indicate females, and the squares indicate males. Filled shapes indicate affected individuals as assessed by the presence of thin corneas, deafness, and hypercompliant tympanic membranes. Keratoconus and developmental dysplasia of the hip were present in individual V:1, developmental dysplasia of the hip in individual V:4, and cleft lip and palate in individual V:5

(B) Hypertelorism, downslanting palpebral fissures, a short nose with anteverted nares, long fingers and toes, and flat feet of individual V:5. are evident. A repaired left-sided orofacial cleft, blue sclera, and single palmar creases are also present.

(C). Note similar facial features and hands and feet to those of her brother (individual V.5) but no orofacial clefting in individual V:4.