Table 1. Comparison of clinical features of X-linked Ohdo syndrome—OSMKB subtype with MED12 mutations .
| Physical features | Present patient family | Vulto-van Silfout et al, 2013 | Isidor et al, 2014 | Langley et al, 2015 | Caro-Llopis et al, 2016 |
Total (%) |
|---|---|---|---|---|---|---|
| Face | ||||||
| High forehead | 2/2 | 2/5 | 2/2 | 0/2 | 0/1 | 6/12 (50) |
| Thick and arched eyebrows | 2/2 | 1/1 | 3/12 (25) | |||
| Sparse eyebrows | 5/5 | 2/2 | 2/2 | 9/12 (75) | ||
| Blepharophimosis | 2/2 | 5/5 | 2/2 | 2/2 | 1/1 | 12/12 (100) |
| Telecanthus | 2/2 | 3/5 | 2/2 | 0/2 | 0/1 | 7/12 (58) |
| Hypertelorism | 1/2 | 3/5 | 2/2 | 0/2 | 1/1 | 7/12 (58) |
| Epicanthic folds | 0/2 | 5/5 | 0/2 | 0/2 | 1/1 | 6/12 (50) |
| Downslanting palpebral fissure | 1/2 | 0/5 | 0/2 | 2/2 | 0/1 | 3/12 (25) |
| Long philtrum a | 1/2 | 4/5 | 0/2 | 0/2 | 1/1 | 6/12 (50) |
| Short philtrum | 1/2 | 1/5 | 0/2 | 0/2 | – | 2/12 (17) |
| Ptosis | 2/2 | 5/5 | NA | 2/2 | 0/1 | 9/10 (90) |
| Strabismus | 0/2 | 3/5 | NA | 2/2 | 1/2 | 6/10 (60) |
| Hypermetropia | 0/2 | 2/5 | NA | 0/2 | 1/2 | 3/10 (10) |
| Micro/retrognathia | 2/2 | 5/5 | 0/2 | 0/2 | 1/1 | 8/12 (67) |
| Bulbous nose | 0/2 | 5/5 | 0/2 | 0/2 | 1/1 | 6/12 (50) |
| Wide nasal bridge | 2/2 | 5/5 | 0/2 | 0/2 | 0/1 | 7/12 (58) |
| Anteverted nostrils a | 1/2 | 3/5 | 1/2 | 0/2 | 0/1 | 4/12 (33) |
| Small mouth | 2/2 | 5/5 | 1/2 | 2/2 | 1/1 | 11/12 (92) |
| Thin vermillion of lips a | 0/2 | 3/5 | 1/2 | 2/2 | 0/1 | 6/12 (50) |
| Low-set ears | 2/2 | 2/5 | 2/2 | 2/2 | 1/1 | 12/12 (100) |
| Triangular face Round face |
1/2 1/2 |
5/5 | 1/2 | 2/2 | 0/1 | 9/12 (75) |
| Genitalia | ||||||
| Chordee | 1/2 | 0/5 | 0/2 | 2/2 | 0/1 | 3/12 (25) |
| Microphallus | 1/2 | 2/5 | 0/2 | 1/2 | 0/1 | 4/12 (33) |
| Undescended testis | 0/2 | 3/5 | 1/1 | 0/2 | 1/1 | 5/11 (45) |
| Musculoskeletal system | ||||||
| Overriding toes | 0/5 | 1/5 | 1/2 | 0/2 | 1/1 | 2/12 (17) |
| Clinodactyly | 0/5 | 2/5 | 1/2 | 0/2 | 0/1 | 3/12 (25) |
| Metaphyseal dysplasia | 0/2 | 1/5 | 2/2 | 0/2 | 0/1 | 3/12 (25) |
| Central nervous system | ||||||
| Intellectual disability | 2/2 | 5/5 | NA | 2/2 | 1/1 | 10/10 (100) |
| Microcephaly | 2/2 | 1/5 | 0/2 | 2/2 | 0/1 | 5/12 (42) |
| Hypotonia | 0/2 | 3/5 | 1/1 | 0/2 | 0/1 | 4/11 (36) |
| Hypertonia | 0/2 | 0/5 | 0/1 | 2/2 | 1/1 | 3/11 (27) |
| Behavior issues | 1/2 | 5/5 | NA | 1/2 | 0/1 | 7/10 (70) |
| Other clinical manifestations | ||||||
| Short stature | 1/2 | 3/5 | 0/2 | 1/2 | 0/1 | 5/12 (42) |
| Congenital heart defect | 1/2 | 0/5 | 1/2 | 0/2 | 0/1 | 2/12 (17) |
| Inguinal hernia | 1/2 | 1/5 | 0/1 | 0/2 | 0/1 | 3/11 (27) |
| Hearing loss | 1/2 | 3/5 | NA | 0/2 | 0/1 | 4/10 (40) |
| Microdontia a | 1/2 | 3/5 | NA | 0/2 | 0/1 | 4/10 (40) |
| Narrow auditory canals | 0/2 | 4/5 | 0/2 | 0/2 | 0/1 | 4/12 (33) |
| Constipation | 0/2 | 2/5 | NA | 0/2 | 1/1 | 3/10 (30) |
| Other less frequent clinical findings b | Unilateral high placed winging scapula & underdeveloped tarsal plate of lower eyelid, hypospadias | Nystagmus, microcornea, thick ala nasi, shawl scrotum, hiatus hernia, seizures, other skeletal finidngs c | Hydrops fetalis, Hirschsprung's disease, short humeri, equinovarus feet, brain imaging and renal abnormalities | Hypotelorism, hypertonia, severe GER, wide spaced teeth | Oligohydramnios, Intrauterine growth retardation, cleft palate, hirsutism, astigmatism | |
Abbreviations: GER, gastroesophageal reflux; NA, not applicable (too young for the conclusive evidence of clinical findings); OSMKB, Ohdo syndrome–Maat-Kievit-Brunner.
Neuroimaging findings: Thin and short corpus callosum, bilateral choanal stenosis. Renal abnormalities: Hypoplastic, pyelocaliceal dilation, renal cysts.
a
Abnormalities not clearly defined as absent or present, some features are marked as present by the author if it is obvious from photographs.
b
Clinical features described in one patient family.
c
Narrow thorax, hip dysplasia, scoliosis, high narrow palate.