TABLE 1.
Summary of the clinical features of the patients.
| Features | Patients in this study | ||
|---|---|---|---|
| II−1 | II−4 | II−5 | |
| Sex | F | F | F |
| Age | 20‐year | 4‐year | 4‐year |
| Height (cm) at present | 147.5 (<<−3SD) | 88 (−4.07 SD) | 89 (−3.83 SD) |
| Weight (kg) at present | 30.6 | 11.6 (−2.30 SD) | 10.4 (−2.83 SD) |
| Birth height (cm) | Unknown | Unknown | Unknown |
| Birth weight (kg) | Unknown | 2.2 (−2.77 SD) | 2.3 (−2.50 SD) |
| Feeding difficulties | + | + | + |
| Craniofacial deformities | |||
| OFC (cm) | 49 (<<−3 SD) | 44 (−4.25 SD) | 44 cm (−3.42 SD) |
| Long face | + | + | + |
| Prominent nose | + | + | + |
| High nasal bridge | + | + | + |
| Short philtrum | + | + | + |
| Hypertelorism | + | + | + |
| Ptosis | + | + | + |
| Long palpebral fissures | + | + | + |
| Micrognathia | + | + | + |
| Neurological deformities | |||
| Hypertonia | + | + | + |
| Intellectual disability | + | + | + |
| Language skills | Cannot speak | Cannot speak | Cannot speak |
| Sexual development | Undeveloped breast, no pubic hair, amenorrhea | Not applicable | Not applicable |
| Skeletal deformities | |||
| Hands and fingers | Slender hands and fingers | − | − |
| Feet and/or toes | Hallux valgus | − | Varus right foot |
| Motor skills | |||
| Crawling | Age of 4.5‐year | Age of 3‐year | Age of 3‐year |
| Walking | Age of 10‐year, can walk with help, but unstable | Can walk with help, but unstable | Can walk with help, but unstable |
| Fine motor skills | Delay (cannot pinch pen and chopsticks), only two fingers can move | Delay | Delay |
| Others | Fecal and urine incontinence | ||
| Laboratory examination | |||
| CK‐MB (Normal range: 0‐25 U/L) | 44 | 60 | 48 |
| HBDH (Normal range: 53‐168 U/L) | 157 | 244 | 229 |
F, female; HBDH,α‐hydroxybutyrate dehydrogenase; M, male; OFC, occipitofrontal circumference.