Fig. 1
From: Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome
Pedigree, facial photographs, and radiographs of both affected siblings with the homozygous FAM111A variant c.81 G > A. A Pedigree of the patients’ family. The healthy father (I:1) and the healthy mother (I:2) are first-degree cousins and heterozygous carriers of the FAM111A c.81 G > A variant. Both affected siblings, patient 1 (II:1) and patient 2 (II:2), carry the FAM111A c.81 G > A variant in the homozygous state. B Facial photographs of patient 1 at the age of 6 years and 11 months (left) and of patient 2 at the age of 3 years and 2 months (right) show prominent forehead, triangular face, sparse eyebrows, deeply set eyes, bilateral microphthalmia, a long and narrow nose with a prominent nasal bridge, and posteriorly rotated ears with a prominent antihelix. C Radiographs of patient 1 (P1) at the age of 6 years and 10 months and of patient 2 (P2) at the age of 2 years (right upper limb) and 3 years and 2 months (skull and lower limbs). Skull radiographs show mild cortical thickening of the skull with narrowed diploic space indicated by a white arrow. Upper and lower limb radiographs show thickened cortex of long bones and stenosis of the medullary cavity of the long bones in both patients indicated by black arrows. m months, y years
