Table 2. Clinical data from 16 patients with the RECQL4 mutations.
| 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Clinical features | RAPA | RAPA | RAPA | RAPA | RAPA | RAPA | RAPA | RTS | RTS | RTS | RTS | RTS | RTS | BGS | BGS | BGS |
| Short stature >−2SD | + | + | + | + | + | + | + | + | + | + | + | − | + | + | NA | NA |
| Dermatological changes | ||||||||||||||||
| Poikiloderma | − | − | − | − | − | − | − | +a | + | + | + | + | + | + | NA | NA |
| Brownish spots | − | − | + | + | − | + | + | − | − | − | − | + | − | − | NA | NA |
| Alopecia, loss of eyebrows or eyelashes | − | − | − | − | − | − | − | + | − | − | − | + | + | + | NA | NA |
| Skeletal abnormalities | ||||||||||||||||
| Thumb a-/hypoplasia | + | + | + | + | + | + | − | + | + | + | + | − | + | + | + | + |
| Radial a-/hypoplasia | + | + | + | + | + | + | − | + | + | + | + | − | + | + | + | + |
| Patellar a-/hypoplasia | + | + | + | + | − | + | − | + | + | + | + | − | + | − | NA | NA |
| High arched/cleft palate | + | − | + | + | − | + | − | + | + | + | + | − | + | − | NA | − |
| Joint dislocations | + | − | + | − | − | − | − | + | − | − | − | + | + | + | NA | − |
| Osteopenia/osteoporosis | − | − | − | − | − | − | − | − | + | + | − | + | − | + | NA | NA |
| Craniosynostosis | − | − | − | − | − | − | − | − | − | − | − | − | + | + | NA | + |
| Malignancies | ||||||||||||||||
| Osteosarcoma | − | − | − | − | − | − | + | − | − | − | − | − | − | − | NA | NA |
| Lymphoma | − | − | − | − | − | + | − | + | − | − | − | − | − | − | NA | NA |
| Diarrhea | + | + | + | + | + | + | + | + | + | + | + | + | − | − | NA | NA |
| Feeding problems | − | + | + | − | + | − | − | + | + | + | + | + | + | + | NA | NA |
| Hearing problems, hearing loss | + | − | − | − | − | − | − | − | + | + | − | − | − | + | NA | NA |
| Gender | M | M | F | M | F | F | M | M | M | F | F | M | F | F | F | F |
| Age in January 2008 (years) | 23 | 5 | 5b | 28 | 1 | 35 | 10 | c | 12 | 13 | 11 | 14 | 4 | 3 | d | e |
a
Atypical poikiloderma, the age of onset 2.5 years.
b
Patient lost for follow-up at the age of 5 years.
c
Patient died at the age of 3.5 years.
d
Pregnancy terminated at 11.5 weeks of gestation.
e
Pregnancy terminated at 23 weeks of gestation.
Brownish spots refer to the brown pigmentation that resembles irregularly shaped café-au-lait spots. This does not include hyperpigmentation seen in poikiloderma.