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. Author manuscript; available in PMC: 2020 Dec 15.
Published in final edited form as: Genet Med. 2020 May 19;22(8):1338–1347. doi: 10.1038/s41436-020-0811-8

Figure 1:

Figure 1:

Figure 1:

Clinical photographs of 20 newly reported individuals with KAT6B disorders (GPS: Genitopatellar Syndrome/SBBYSS: Say-Barber-Biesecker-Young-Simpson Syndrome/ NOS: not otherwise specified) showing:

a) Facial features of affected individuals. Note the blepharophimosis, ptosis and mask-like facies in individuals with SBBYSS and the intermediate phenotype.

b) Long thumbs and/or long great toes (upper left: individual 13; upper right: individual 15; lower left and lower right: individual 29).

c) Flexion contractures and club feet (left: individual 24; right: individual 5).

d) Absent patella in individual 5.

e) Pre-axial polydactyly of the right hand in individual 25.

f) Overlapping toes in individual 21.

g) A newborn with GPS who died after birth at 28 weeks of gestation (Individual 8). Note the high forehead, blepharophimosis, small palpebral fissures with hypertelorism, sparse eyebrows and eyelashes, small simplified ears with bilateral pits, proximal/distal arthrogryposis and contractures of the hip/knees.