Table 3. Comparison of phenotypes observed in patients with Say-Meyer syndrome.
| Patients from this study (IV-1 and IV-3) (two male siblings) | Say-Meyer syndrome review Salinas-Torres, 2015 (nine patients – 8 males and 1 females) |
|
|---|---|---|
| Craniofacial manifestations | ||
| Trigonocephaly | ++ | 7/7 |
| Microcephaly | ++ | 2/6 |
| Narrow bi-frontal diameter | ++ | 8/8 |
| Triangular face | ++ | ? |
| Prominent metopic suture / metopic ridge | ++ | 8/8 |
| Bitemporal narrowing | - | 6/6 |
| Small anterior fontanel | - | 3/4 |
| Closed posterior fontanel (at birth) | - | 2/2 |
| Flat occiput | ++ | ? |
| Strabismus | - | 5/7 |
| Deep set eyes | - | 6/7 |
| Epicanthal folds | - | 6/6 |
| Hypotelorism | ++ | 9/9 |
| Arched eye-brows | + | 5/5 |
| Wide nasal bridge | - | 6/6 |
| Small pointed nose | - | 7/7 |
| Anteverted nostrils | - | 7/7 |
| Malar flattening | ++ | 5/5 |
| Long philtrum | ++ | 6/6 |
| Narrow mouth | + | 5/6 |
| Thin lips | - | 5/5 |
| Tented upper lip | ++ | ? |
| High palate | ++ | 3/5 |
| Micrognathia | - | 6/6 |
| Blepharophimosis | ++ | ? |
| Low-set ears | ++ | 5/6 |
| Frontal bossing | ++ | ? |
| Retroverted ears | ++ | ? |
| Nystagmus | ++ | ? |
| Microstomia | ++ | ? |
| Skeletal manifestations | ||
| Clinodactyly | ++ | 1/6 |
| Pectus excavatum | + | ? |
| Pes planus | ++ | ? |
| Short neck | + | ? |
| Neurological manifestations | ||
| Intellectual disability | ++ | 1/9 |
| Developmental delay | ++ | 8/8 |
| Short stature | ++ | 9/9 |
| Seizures | + | 4/7 |
| EEG anomalies | Not done | 2/6 |
| CNS anomalies | Not done | 4/4 |
| Autism spectrum disorder | ++ | ? |
| Other findings | ||
| Hypospadias | ++ | |
| Hand pattern anomalies | + | 2/3 |
| Inguinal hernia | - | 2/5 |
| Cardiovascular defects | - | 3/5 |
| Renal anomalies | - | 1/3 |
| Hearing loss | - | 2/3 |