Table 2.
Comparison of the clinical features of our patient and the patient described by Caro-Llopis et al. having MED13L c.5695G > A, p.(Gly1899Arg) mutation based on the clinical table created by Tørring et al. (2019)
| Clinical feature | Caro-Llopis et al. (2016) | Our patient |
|---|---|---|
| Intellectual disability | Yes | Yes |
| Speech delay | Yes | Yes |
| Anomalies of the hands and feet | NA | Yes; fattened eminences, overriding toes, pedes plani, halluces valgi |
| Hypotonia | Yes | Yes |
| Ophthalmological anomalies | Yes; strabismus, ptosis | No |
| Anomalies on cerebral MRI | Yes; ventriculomegaly, mega cisterna magna | No |
| Congenital heart defect Complex Simple (PFO/PDA) |
Yes; PDA | Yes; ASD, transposition of the pulmonary veins |
| Autistic features | Yes | NA |
| Bulbous nasal tip | NA | No; pointed |
| Open mouth appearance | Yes | Yes |
| Depressed/broad nasal root | Yes; both | No; rather high nasal bridge |
| Ear anomalies | Yes; low-set | Yes; prominent |
| Macrostomia | NA | Yes |
| Upslanting palpebral fissures | No; downslanting | No; downslanting |
| Macroglossia | NA | Yes |
| Bitemporal narrowing | NA | No; short forehead |
| Brachycephaly | NA | NA |
| Horizontal eyebrows | NA | NA |
| Others | Unilateral hearing loss, atopic dermatitis | Epilepsy, broad-based gait, crowded teeth, maxillary hypoplasia, large frontal incisors, hypotrophic muscles |
(NA) Not assessed, (MRI) magnetic resonance imaging, (PFO) patent foramen ovale, (PDA) patent ductus arteriosus, (ASD) atrial septal defect.