Figure 1
From: Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Pedigrees and clinical pictures of patients 1–3. (a) Pedigree of family 1 and (b) family 2 indicate consanguinity in both families, the patients are filled symbols (in a, P1 is V:3; P2 is V:2, in b P3 is III:1). (c) P1 at the age of 5 years and 10 months; (d) P2 at the age of 5 years and 9 months and (e) P3 at 6 years. Note narrow thorax in all patients, prominent abdomen in P1 and P3 and rhizomelic shortening of the upper limbs in P2 and P3. P2 has severe flexion contractures of the elbows, hips and knees, as well as genu varum.
