Figure 3
From: Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Radiograms, clinical photos and pedigree of patient 4 (P4). (a) The pedigree of family 3, P4 is from the second pregnancy (II-2) which was terminated at gestational age 19 + 3. Pregnancy number 3 (II-3) was a missed abortion in week 8 and pregnancy 5 of the same couple (II-5) was terminated at GA 25 due to similar features; (b,e) The clinical pictures showing distinctive facial features with a relatively large head, micrognathia, high forehead, low-set posteriorly rotated left ear and small nose with a broad nasal root. The abdomen is prominent and the external genitalia show a micropenis; (c,d) Radiograms of P4 show short bowed long bones, short ribs and extremely narrow thorax.
