Table 1. Frequency of clinical and... | Rockefeller University Press

Table 1.

Frequency of clinical and laboratory features in patients with SPENCD

Clinical feature	Number of patients^{^a}	Percentage as reported in Briggs et al. (14)
Skeletal dysplasia	85	96% (24/25)
Short stature	73	96% (24/25)
Brain calcification	36	64% (9/14)
Developmental delay	29	28% (7/25)
SLE	27	36% (9/25)
Spastic paraparesis	25	44% (11/25)
AIHA^{^b}	22	28% (7/25)
AITP^{^b}	18	46% (12/26)
Hypothyroidism	14	20% (5/25)
“Significant” infections	11	20% (5/25)
Laboratory feature
Antinuclear antibody positive	33	95% (21/22)
Anti-double–stranded DNA antibody positive	21	71% (15/21)

Clinical feature	Number of patients^{^a}	Percentage as reported in Briggs et al. (14)
Skeletal dysplasia	85	96% (24/25)
Short stature	73	96% (24/25)
Brain calcification	36	64% (9/14)
Developmental delay	29	28% (7/25)
SLE	27	36% (9/25)
Spastic paraparesis	25	44% (11/25)
AIHA^{^b}	22	28% (7/25)
AITP^{^b}	18	46% (12/26)
Hypothyroidism	14	20% (5/25)
“Significant” infections	11	20% (5/25)
Laboratory feature
Antinuclear antibody positive	33	95% (21/22)
Anti-double–stranded DNA antibody positive	21	71% (15/21)

Data from the 90 patients reported in the 27 references included in Table S1. Note that data on each feature was not provided for all 90 patients described in these 27 references.

A diagnosis of Evans syndrome was made in five patients.

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