Table 2.
Clinical features associated with ELF1 variants
| Stepensky et al. case series | Duke case | |
|---|---|---|
| Stature | −2.6 to −4.8 SD | −3.7 SD |
| Head circumference | Normal in 2/6 patients (other 4 were from consanguineous families) | Normal |
| Radiologic findings | Metaphyseal irregularities in proximal and distal femurs, fibulae, and humeri; anterior rib cupping | Metaphyseal irregularities in proximal and distal femurs, tibia, fibulae, humeri; flattening of hip epiphyses; iliac crest apophyseal irregularity; vertebral body endplate irregularities; scoliosis |
| Pancreatic insufficiency | 6/6 patients (5/6 with diarrhea) | No diarrhea; equivocal pancreatic laboratory results |
| Liver disease | 1 patient with mild hepatomegaly | Transaminitis (ages 2–4 yr) (AST 64–169 U/l; ALT 73–238 U/l)a; moderate portal, periportal bridging, and centrilobular fibrosis (age 2 yr) |
| Anemia | 4/5 patients | Absent; hemoglobin 11.1–12.1 g/dlb,c |
| Neutropenia | 4/5 patients | Absent; ANC 1353–14874 cells/µlc |
| Thrombocytopenia | 4/5 patients | Present; chronic since age 6 yr (platelets 96–136 × 109/l)c,d |
| Development | 6/6 developmental delay | Learning disabilities in school |
| Outcome | 3/6 deceased (ages 7 mo–15 mo); 3/6 alive (ages 15 mo to 6 yr) | Alive (age 14 yr) |
SD, standard deviation; AST, aspartate transaminase; ALT, alanine transaminase; ANC, absolute neutrophil count.
aReference ranges for AST: 10–60 U/l; ALT: 10–45 U/l.
bReference ranges for hemoglobin: normal 11.5–13.5 g/dl ages 2–5 yr; 11.5–15.5 g/dl ages 6–11 yr; 12.0–16.0 g/dl ages 12–17 yr.
cExcluding blood counts obtained during episode of pancytopenia (see text).
dReference range for platelet counts: normal 150–400 × 109/l.