Table 3.
Clinical comparison between the patient here described with TMBTS and the patient described by Kortüm et al. (subject 3)
| Patients having the p.(Gly348Arg) mutation | ||
|---|---|---|
| Present patient | Subject 3 in Kortüm et al. (2015) | |
| Gender | M | F |
| Complicated Pregnancy | + | ND |
| Milestone | ||
| Birth weight | 2.700 g (60th percentile) | 3,290 g (39 weeks) (54th percentile) |
| Height at birth | 48 cm (75th percentile) | 55 cm (99th percentile) |
| Head circumference at birth | 33 cm (60th percentile) | ND |
| Clinical findings | ||
| Age (years) | 09/12 | 19 |
| Consanguinity | - | ND |
| Limbs | ||
| Absence of nails | Nails of thumb and hallux | Nails of hands and feet |
| Broad, long thumbs terminally | + | ND |
| Adductus deformity of distal thumb | + | ND |
| Hypoplasia of terminal phalanges of hands and feet | Nearly absent | + |
| Delay in epiphyseal maturation | + | ND |
| Neurologic | ||
| Intellectual disability | + | Severe |
| Poor visual contact | + | ND |
| Seizures | - | Started in adolescence |
| Hypotonia/motor retardation | + | + |
| Hearing loss | - | - |
| Abnormal MRI findings | - | NA |
| Dysmorphic features | ||
| Thoracic abnormalities | + | Thoracic scoliosis |
| Coarse face | - | + |
| Myopathic appearance | + | ND |
| Hypertrichosis | - | - |
| Coarse thick hair | - | - |
| Flat forehead | Bulging | ND |
| Mild hypertelorism | + | ND |
| Epicanthal folds | + | ND |
| Broad depressed nasal bridge | + | ND |
| Short columella | + | ND |
| Long philtrum | + | ND |
| Thick vermillion border of upper lip | - | ND |
| Broad mouth with downturned corners | + | ND |
| Gingival enlargement | + | Noticed in childhood prior anticonvulsant treatment |
| Central incisors | + | + |
| Narrow and high palate | + | ND |
| Inverted nipples | Widely spaced | ND |
| Systemic manifestations | ||
| Gastrointestinal symptoms | Constipation | ND |
| Small genitalia/endocrine anomalies | - | Solitary renal cyst |
| Cardiovascular system anomalies | - | ND |
Abbreviations: +, present; −, absent; ND not documented