Figure 2.

Clinical Presentation of Subjects with Keipert Syndrome and Mutations in GPC4

(A–I) Facial features of individuals, demonstrating hypertelorism, a broad forehead, a broad nose, a flat midface, prominent lips, and downturned corners of mouth. Illustrated are (A) KS1 II:5 at age 15 months, (B) KS1 II:6 at age 5 years, (C and D) KS2 III:1 at age 12 years and 19 years, (E, F, and G) KS2 III:2 at ages 7 years and 17 years, (H) KS4 II:1 at age 3 years, and (I) KS5 II:2 at age 2 years.

(J) Right hand of KS2 III:1, showing brachydactyly and broad terminal phalanges.

(K–L) Left hand and right foot of KS5 II:2, showing brachydactyly and a broad great toe.

(M) Right foot of KS2 III:2, showing clinodactyly and broad terminal phalanges.

(N–O) Right foot of KS3 II:1, showing synostosis between metatarsals III and IV.

(P) Schematic representation of the location of pathogenic variants identified in GPC4 and the exon and protein domain structure. The signal peptide sequence (green), phosphoserine (red), glycosylation (orange), lipidation (dark blue), and cleaved GPI anchor (pink) are indicated. The gene structure was derived from the UCSC Genome Bioinformatics database, and protein coordinates were obtained from Uniprot.

Informed consent for publication of photos was obtained from all individuals or their parents.