Table 3 Clinical comparison between the patient here described with TMBTS and the patient described by Kortüm et al. (subject 3)
From: Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
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 |