Table 1 Clinical features of the present patient in comparison with the previously reported patients.
Present patient | Patients reported by Ito et al.1 | |
|---|---|---|
General | ||
Age (years) | 6 | 21–30 (average 24) |
Gender | Female | 4/1 (male/female) |
Birth | ||
Gestation (weeks) | 38 | 39–41 |
Weight (g) | 3585 | 3370–4100 (average 3862) |
Occipitofrontal circumference (cm) | 35.2 | 35.5 (average 35.5) |
Neurological | ||
Intellectual disability | Severe | Moderate to profound |
Seizures | + | 4/5 (onset 8 months to 8 years) |
Speech | Non-verbal | 1 non-verbal/3 simple words |
Hypotonia | + | 4/5 |
History of regression | − | 2/5 since infancy |
Wide-based gait with poor balance | − | 3/5 (1/5 non-ambulant) |
High pain tolerance | − | 4/5 (2 of them show self-injury) |
Head imaging | No abnormality | 3/5 (mild atrophy or enlarged ventricules) |
Current measurements | ||
Occipitofrontal circumference (cm) | 49.5 | 2 macrocephaly/1 microcephaly |
Weight (kg) | 19.2 | 40.2–82 (average 57) |
Height (cm) | 110 | 150–183 (average 167) |
Motor development | ||
Age at unsupported sitting (months) | 7 | 6–22 (average 14) |
Age at walking | 24 | 25–120 (average 57)/1 non-ambulant |
Craniofacial | ||
Midface hypoplasia | + | 3/4 |
Strabismus | + | 4/5 |
Musculoskeletal | ||
Joint hyperflexibility | − | 3/5 |
Long tapered fingers | − | 2/4 |
Ankle valgus | + | 2/5 |
Pes planus | + | 3/5 |
Other | ||
Widely spaced nipples | − | 2/5 |
Café au lait macules | − | 2/4 |
Feeding problems | + | 3/5 |
Genitourinary | − | 2/5 |
Constipation | − | 4/5 |
