Table 1 Clinical findings in the proband IV-1 and her mother III-3
General information | IV-1 | III-3 | ||
Gender | female | female | ||
Onset age | 3y | 40y | ||
Age at admission | 3y | - | ||
Death (age) | 30y | 55y | ||
Clinical features | IV-1 | III-3 | ||
Developmental delay | short stature; mental retardation | No | ||
Hearing loss | Yes | No | ||
Facial abnormality | exophthalmos; temporal-facial fistula and abscess | No | ||
Visual impairment | Yes | No | ||
Palate cleft | Yes | No | ||
Dental problem | agomphiasis; irregular teeth alignment | No | ||
Osteomyelitis | Yes | No | ||
Skeletal symptom | bone fracture | inger skeletal deformity | ||
Splenomegaly | Yes | Yes | ||
Imaging findings | IV-1 | III-3 | ||
Chest X-ray | increased bone density; scoliosis; “sandwich” appearance of vertebrae | NA | ||
Long-Bone X-ray | increased bone density; fracture of right upper arm; Erlenmeyer flask deformity of tibia and fibula | NA | ||
Hand X-ray | fracture of proximal phalanx of left middle finger | NA | ||
Cranial CT | skull thickening, palate cleft, agomphiasis, irregular teeth alignment; poor sinus gasification; the hammer-anvil joint fixation; tympanosclerosis; bone sclerosis of the maxilla and mastoid | intracranial hemorrhage | ||
Laboratory test | IV-1 | III-3 | ||
pre-operation | post-operation | |||
RBC (3.8–5.1 × 1012/L) | 3.0 | 3.9 | 3.5 | |
WBC (3.5–9.5 × 109/L) | 2.9 | 10.2 | 2.5 | |
PLT (125–350 × 109/L) | 30 | 110 | 20 | |
Hb (115–150 g/L) | 59 | 101 | 71 | |
Bone marrow aspiration | NA | bone marrow failure | ||