Fig. 1.

Phenotypes and genetic locus of a Chinese family with rare X-linked compound phenotypes. a Pedigree of the family with the X-linked recessive phenotype. Individuals with peripheral blood samples available are indicated by “*”, arrow indicates the proband. b–d Compound phenotype of the proband. All male patients presented with everted lipsat birth, especially at the lip corners (b), genu varum with unknown cause after starting to walk (c), and cubitus valgus (d). e Whole genome linkage analysis showing a 4 Mb critical region on chromosome X. f Schematic diagram showing RefSeq genes in the critical region. A red bar indicates the position of the Xq27.1 palindrome