Table 1.

Skeletal Features of Subjects Diagnosed with SPONASTRIME Dysplasia

Subject ID	1	2	3-1	3-2	4	5	13	14	15
Sex	f	f	m	m	f	f	m	f	m
Age at Last Follow-up	7 years, 9 months	7 years, 11 months	4 years, 9 months	9 months	22 years	23 years	17 years, 10 months	4 years	11 years
Height (Z score)	−3.3	−4.2	−5.0	−9.0	−10.8	−8.8	−5.1	−6.7	−6.0
Weight (Z score)	−0.1	−1.2	−2.1	−5.1	−4.2	−3.0	−2.4	−2.2	−4.0
FOC (Z score)	N/A	N/A	−0.6	N/A	−3.4	−2.1	0.6	−1.0	−3.0
Disproportionately Short Stature	yes	yes	yes	yes	yes	yes	no	yes	yes
Orthopedic Abnormalities	none	genu valgum; leg length discrepancy; Perthes versus avascular necrosisa	rhizomelia; brachydactyly	rhizomelia; brachydactyly	rhizomelia and mesomelia; short, broad hands and feet	mildly short hands and feet	knee pain but no surgeries or joint dislocations	kyphoscoliosis; hyperlordosis; joint laxity; genu valgum	genu valgum (s/p surgery); leg length discrepancy; brachydactyly
Radiographic Features
Metaphyses	widened metaphyses with striations and irregularities	metaphyseal irregularities	broad, flared with striations and irregularities	broad and flared	metaphyseal striations with irregularities	widened metaphyses with striations and irregularities	irregular, with striations	metaphyseal striations with irregularities	striations and irregularities, most notably in distal femurs and proximal tibias
Epiphyses	normal	unknown	small epiphyses which progressed to flattened epiphyses	normal	unknown	normal	normal	normal	small; delayed ossification
Spine	platyspondyly	platyspondyly	platyspondyly	platyspondyly	platyspondyly with biconcave vertebrae; progressive, severe double curve scoliosis	platyspondyly; biconcave vertebrae	biconcave vertebrae with mild platyspondyly	mild platyspondyly; some vertebral bodies with biconcave endplates	biconcave deformities; pear-shaped vertebral bodies; progressive decrease in interpedicular distances
Other Skeletal Findings	short, wide femoral necks	unknown	shallow acetabula with prominent ischial component; genu valgum	squaring of iliac wings	very short, irregular femoral necks; coxa vara; ivory epiphyses (hand); dislocated left hip with pseudoacetabulum	short femoral neck; coxa vara	exaggerated lumbar lordosis	none	slightly short and wide femoral necks

Abbreviations are as follows: f = female, m = male, FOC = frontal occipital circumference, and N/A = not available.

^aReported by parents after evaluation.