Table 1.
Clinical findings in patients with mutation in the N-terminal of β-catenin. * Previously published patients [2], n.e. not examined, n.r. not recorded
| Our Patient | Patient 5* | Patient 10* | Patient 13* | |
|---|---|---|---|---|
| Gender | M | F | F | M |
| Gestational weeks | 39 | 40 | 40 | 39 |
| Apgar scores | 10 | 9/10/10 | n.r. | 10/10 |
| Birth weight [g] | 2900 | 3450 | 3300 | 3160 |
| Birth length [cm] | 53 | 51 | 50.8 | 49 |
| Age at last examination [y] | 11 | 5 7/12 | 4 | 5 6/12 |
| Height [cm] | 150 | 108 | 104.5 | 112 |
| Weight [kg] | 46 | 15 | 14.15 | 17.2 |
| BMI [kg/m2] | 20.4 | 12.9 | 13.0 | 13.7 |
| OFC [cm] | 51 | 47.3 | 46 | 48.5 |
| Microcephaly | + | + | + | + |
| Croniofacial dysmorphism | ||||
| broad nasal tip | + | + | + | (+) |
| small alae nasi | + | + | + | - |
| long and/or flat philtrum | −/+ | +/+ | +/+ | −/+ |
| thin upper lip vermillion | + | + | + | + |
| Developmental and neurological abnormalities | ||||
| Truncal hypotonia | + | + | + | + |
| Peripheral hypertonia/spasticity | + | + atactic gait |
+ | + legs > arms |
| Motor delay Crowling (months) Free walking |
moderate | severe | moderate | moderate |
| did not crawl | 24 | 12 | 25 | |
| 3 years | not yet, walking frame | 4 years, falls a lot | not yet, walking frame | |
| Speech impairment | moderate, unclear speech | severe, few words (30–34), sign language | speech apraxia, ~50 words | short sentences at 6 years |
| Basic speech comprehension | + | + | + | + good |
| Intellectual disability | + | + | + | + (no formal test available) |
| Regression | + speech | ? | - | - |
| Behavioral characteristics | temper tantrums/crying, friendly personality, aggression, frustration, anxiety, sleep disturbances, stereotypic movements | sleep disturbances, stereotypic movements, autoagression | normal | normal, friendly, sensitive to loud noises |
| Seizures | - | - | - | - |
| EEG | during episodes diffused fast background activity | normal | normal | n.e. |
| Brain MRI | arachnoid cyst, enlarged Sylvius sulcus | normal | basically normal | normal |
| Hearing loss | - | - | - | - |
| Vision | hyperopia, astigmatism, strabismus | hyperopia, intermittent strabismus | normal | strabismus |
| Others | ||||
| Internal abnormalities | - | - | - | - |
| Frequent infections | - | - | - | + (infancy) |
| Miscellaneous | ginecomastia, inverted nipples | - | feeding difficulties | - |
| Hands | slender and long fingers | thin fingers, short distal phalanges | normal | clinodactyly V, hand and feet |
| Feet | sandal gap, long toes | flat feet | normal | pes equines |