Table 1.
Phenotypic Features of 3-M syndrome in three affected foetuses.
| CATEGORY | SUBCATEGORY | FEATURES | 3a | 4b | 5b |
|---|---|---|---|---|---|
| Growth | Height | Short stature | + | + | + |
| Weight | Low birth weight | NA | NA | NA | |
| Other | Intrauterine growth retardation | + | + | + | |
| Postnatal growth retardation | NA | NA | NA | ||
| Head and Neck | Head | Frontal bossing | ND | + | + |
| Increased relative head circumference | ND | + | + | ||
| Face | Triangular face | ND | + | + | |
| Pointed, prominent chin | ND | + | + | ||
| Hypoplastic midface | ND | + | + | ||
| Long philtrum | ND | ND | + | ||
| Eyes | Full eyebrows | NA | NA | NA | |
| Nose | Fleshy, upturned nose | ND | ND | ND | |
| Low nasal bridge | ND | + | + | ||
| Depressed nasal root | ND | ND | ND | ||
| Anteverted nares | ND | ND | + | ||
| Mouth | Full lips | NA | NA | NA | |
| Neck | Short neck | NA | NA | NA | |
| Respiratory | Neonatal respiratory distress | NA | NA | NA | |
| Chest | External Features | Short, wide, flat thorax | NA | NA | NA |
| Pectus excavatum | NA | NA | NA | ||
| Ribs, Sternum, Clavicles and Scapulae | High, square shoulders | NA | NA | NA | |
| Rib hypoplasia | NA | NA | NA | ||
| Winged scapulae | NA | NA | NA | ||
| Abdomen | External Features | Enlarged abdomen | NA | NA | NA |
| Genitourinary | External Genitalia (Male) | Hypospadias | NA | NA | NA |
| Small testes | NA | NA | NA | ||
| Skeletal | General | Delayed bone age | + | + | + |
| Joint hypermobility | NA | NA | NA | ||
| Joint dislocation | NA | NA | NA | ||
| Skull | Dolichocephaly | ND | ND | ND | |
| Spine | Tall vertebral bodies | ND | ND | ND | |
| Hyperlordosis | NA | NA | NA | ||
| Pelvis | Hip dislocation | NA | NA | NA | |
| Small pelvis | NA | NA | NA | ||
| Limbs | Long, slender tubular bones | NA | + | + | |
| Hands | Short fifth fingers | NA | NA | NA | |
| Clinodactyly | NA | NA | NA | ||
| Feet | Prominent heels | NA | + | + | |
| Pes planus | NA | NA | NA | ||
| Skin, Nails, Hair | Hair | Full eyebrows | NA | NA | NA |
| Neurologic | Central Nervous System | Normal intelligence | NA | NA | NA |
| Spina bifida occulta | NA | NA | NA | ||
aultrasound and radiograph; bformal autopsy performed; NA (Not applicable); ND (Not done or tested)