Table 1 Comparison of the clinical phenotype of patients described in this paper with those in [11]
From: Two different presentations of de novo variants of CSNK2B: two case reports
Clinical Features | Case 1 | Case 2 | [11] |
|---|---|---|---|
Genotype | c.494A>G (p.His165Arg)/– | c.94G>T(p.Asp32Tyr)/– | 6p.21.33 deletion/– |
Perinatal history | Placental detachment | Placental detachment | Uneventful |
Hypotonia | Yes | Yes | Yes |
ID/DD | Yes | Yes | Yes |
Gross motor development delay | Yes | Yes | Yes |
Development of speech and language | Yes | No | Yes |
Facial dysmorphisms | Midfacial hypoplasia, bilateral strabismus, lingual protrusion, and over-folded helices | Microbrachycephaly, low nasal root, anteverted nostrils, malar hypoplasia, high and narrow palate, duplicated upper right incisor, prominent and dysplastic ears | Relative macrocephaly. Large low-set ears, downslanting palpebral fissures, flared eyebrows, wide-base nose, and flat philtrum with thin upper lip |
Other dysmorphisms | No | Supernumerary nipples, short fifth fingers, distal tapering of fingers, left hand postaxial polydactyly, and nail hypoplasia | ND |
Age at seizure onset | Newborn | 9 months | ND |
Seizure types | Myoclonic spasms | Atonic Seizures | ND |
Familiar recurrence | No | No | No |
EEG | Normal | Disorganized base activity | ND |
Brain image | Normal | Normal | Incomplete hippocampal folding |
Other | Obstructive laryngomalacia | No | Asthma attacks and food allergies |