Table 1.
The comparison of features typical of SHORT syndrome, with our patient’s features
| Typical features of SHORT syndrome | Our patient’s features | |
|---|---|---|
| Development | Short stature | + |
| Low body weight | + | |
| Phenotypic traits | Triangular face | + |
| Prominent forehead | + | |
| Small chin | + | |
| Thin or underdeveloped nostrils/ Hypoplastic nasal alae |
+ | |
| Large mouth with thin, downturned lips | + | |
| Low set ears | + | |
| Eyes | Rieger anomaly | - |
| Deeply-set eyes | + | |
| Glaucoma | - | |
| Cataract | - | |
| Myopia | - | |
| Teeth | Delayed teething | + |
| Small teeth/microdontia | + | |
| Hypodontia | - | |
| Lack of protective layer | - | |
| Bones and joints | Delayed bone age | + |
| Joint hyperextensibility | - | |
| Clinodactyly | - | |
| Skin and subcutaneous tissue | Thin and wrinkled skin with well-visible blood vessels | + |
| Lipoatrophy | + | |
| Nervous system and cognitive function | Intelligence within normal ranges | + |
| Delayed speech development | + | |
| Urinary system | Nephrocalcinosis | - |
| Endocrine system | Glucose intolerance/ diabetes mellitus | - |
| Insulin resistance | - | |