The eyes had short, upslanting palpebral fissures, hypertelorism and epicanthal folds. There were duplicated renal collecting system, limited range of motion in the neck and a narrow thorax.

Sibling patients 10 (e) and 11 (f) show upslanting palpebral fissures, strabismus, hypotelorism, a smooth philtrum and anteverted nares.

'Patients presenting with Pallister-Killian (P-K) syndrome often present with severe hypotonia, macrocephaly, prominent forehead, hypertelorism, coarse and flat facies, upslanting palpebral fissures, ...