Table 1. Clinical, radiographic and genetic findings of the axial SMD subjects.

Patient ID	P1-1	P1-2	P2	P3-1	P3-2	P4	P5	P6	P7	P8-1	P8-2	P8-3	P9
Family ID	F1	F1	F2	F3	F3	F4	F5	F6	F7	F8	F8	F8	F9
C21orf2 mutation	+	+	–	–	–	–	+	+	+	+	+	+	+
General information
ethnicity	Saudi Arabian	Saudi Arabian	Japanese	Korean	Korean	Japanese	Korean	French	Saudi Arabian	Turkish	Turkish	Turkish	Swedish
consanguinity of parents	+	+	–	–	–	–	–	+	+	+	+	+	probably +
sex	F	M	F	M	F	M	M	M	M	M	F	F	F
age (at last visit) [yr]	4.6	7	0.9	23	15	12	15	14.8	9	9	37	30	28
birth length [cm]	51	51	47.6	NA	NA	48.5	49	51.5	NA	50	NA	NA	49
birth weight [g]	3,440	3,480	NA	3,000	2,880	3,052	2,350	3,850	NA	3,600	NA	NA	3,400
Clinical feature
growth delay/short stature	+	+	+	+	+	+	+	+	+	+	+	+	+
narrow thorax	+	+	+	+	+	+	+	+	+	+	+/–	+/–	+
short trunk	–	–	–	+	+	+	+	–	–	–	–	–	–
scoliosis	–	–	–	–	–	+	+	–	–	–	–	–	+
upper limb rhizomelic shortening	+	+	+	+	+	+	+	+	–	–	NA	NA	+
respiratory disturbance at birth	–	–	+	–	–	+	–	–	+	+	NA	NA	–
retinal dystrophy	CRD	CRD	RP	RP	RP	RP	RP	CRD	RP	RP	RP	RP	RP
other eye problems				optic atrophy, nystagmus	optic atrophy, nystagmus	cataract, nystagmus		photophobia		ptosis
Radiological feature
platyspondyly	–	–	–	+	+	+	–	–	+	+	+	+	–
short rib	+	+	+	+	+	+	+	+	+	+	NA	NA	+
cupped anterior end of rib	+	+	+	+	+	+	+	+	+	+	NA	NA	–
lacy ilia	+	+	–	+	+	+	+	+	+	–	NA	NA	NA
coxa vara	–	–	–	+	+	+	+	–	–	–	+	+	+
flattening of femoral head	+	+	NA*	+	+	–	–	+	+	+	+	+	+
metaphyseal dysplasia of
–proximal femur	+	+	+	+	+	+	+	+	+	+	–	–	–
–other long bones	–	–	–	–	–	–	+	NA	–	–	NA	NA	NA
–metacarpal	+	+	–	–	–	–	+	–	–	+	NA	NA	–

NA: not available or assessed, RP: retinitis pigmentosa, CRD: cone-rod dystrophy.

*epiphyses are not ossified.