Table 2 Skeletal findings of patients carrying mutations of the EP300 gene.

	Patient 1	Patient 2	Patient 3	Patient 4
EP300 mutation identified	p.R648X	p.Q1209fsX1226	p.S959fsX966	c.1200‐?_94+?del
Spine	Normal	Normal	NR	NR
Sternal or rib anomalies	None	None	None	NR
Hands
Thumbs
Broad thumbs	No	No	Yes	No
Short proximal phalanx	No	No	Yes	No
Radially deviated thumbs	No	No	No	No
Phalanges
Broad/short terminal phalanges	No	No	Yes*	No
Clinodactyly of fifth fingers	No	No	No	No
Fetal finger pads	Yes	No	NR	NR
Feet
Halluces
Broad halluces	Discrete	No	Yes	Discrete
Radially deviated halluces	No	No	No	No
Duplicated phalanx	No	No	Yes†	No
Other findings	None	None	Yes‡	None
Toes
Overlapping toes	Discrete	No	No	No
Splaying of toes	No	No	Yes	No
Pes planus	Yes	No	No	NR*

NR, not reported.

*Radiographs reveal irregular ossification of distal phalanges.

†Radiographs show partial duplication of the distal phalanx.

‡Very short and broad delta‐shaped first metatarsal bone, leading to the proximal implantation of halluces.