English: JBS patients.(A) Patient #1, whose facial appearance is nearly normal. Note the frontal upsweep of the hair and subtle hypoplasia of the nasal wings (minor signs of JBS). (B) Patient #2, a typical facial appearance of JBS, including the aplasia of nasal wings, midface hypoplasia, and a characteristic frontal hair pattern. (C) Patient #3, with a mild hypoplasia of nasal wings. (D) A previously described case of severe JBS, with typical facial features, in which both alleles of UBR1 were, most likely, allele