Table 1.
Comparison of clinical features seen in three patients with FBRSL1 mutation reported by Ufartes et al. (2020) and our patient.
| Characteristics | Ufartes et al., 2020 [1] | Our Patient |
|---|---|---|
| Growth and feeding | ||
| Low birth weight | 2/3 | + |
| Short stature | 3/3 | + |
| Microcephaly | 3/3 | + |
| Feeding difficulties | 3/3 | + |
| Neurodevelopmental disorders | ||
| Intellectual disability | 3/3 | + |
| Autism/autistic behavior | 3/3 | + |
| Neurological disorders | ||
| Cerebral palsy/spasticity | 2/3 | + |
| Other: respiratory insufficiency with ventilation therapy | 3/3 | − |
| Dysmorphic features | ||
| High arched eyebrows | 2/3 | − |
| Epicanthal folds | 2/3 | − |
| Prominent nasal tip | 1/3 | − |
| Deep/broad nasal bridge | 2/3 | + |
| Short/upturned philtrum | 2/3 | + |
| Micro-/retrognatia | 1/3 | + |
| Low set ears | 2/3 | − |
| Narrow mouth | 1/3 | − |
| Other: widely spaced teeth | 2/3 | + |
| Skeletal disorders | ||
| Kyphosis/scoliosis | 3/3 | + |
| Other (camptodactyly/contractures) | 3/3 | + |
| Congenital malformation | ||
| Patent foramen ovale/atrial septum defect | 2/3 | − |
| Other | ||
| Cleft palate | 2/3 | − |
| Asplenia | 1/3 | − |
| Anal atresia | 1/3 | − |
| Abnormality of the skin | 2/3 | − |
| Hearing impairment | 2/3 | − |
| Other previously not reported | ||
| Epilepsy | + | |
| Stereotypy (ritualistic movement, posture, or utterance) | + | |
| Dislocation of the hips | + | |
| Mastication problems | + | |
| Percutaneous Endoscopic Gastrostomy (PEG) | + |