Copyright
©The Author(s) 2020.
World J Clin Cases. Jan 26, 2020; 8(2): 331-336
Published online Jan 26, 2020. doi: 10.12998/wjcc.v8.i2.331
Published online Jan 26, 2020. doi: 10.12998/wjcc.v8.i2.331
Table 1 Main clinical features of the twins
| Feature | Patient 1 | Patient 2 |
| Familial history | - | - |
| Short stature | - | - |
| Frontal bossing | - | - |
| Flat face | - | - |
| Hypertelorism | - | - |
| Epicanthus | - | - |
| Telecanthus | - | - |
| Down-slanting palpebral fissures | - | - |
| Hypoplasia of the nasal alae | - | - |
| Low set ears | - | - |
| Pseudocleft of the upper lip | - | - |
| Cleft lip/tongue/palate | - | - |
| Microretrognathia | - | - |
| Abnormal hairs | - | - |
| Lobulated tongue | - | - |
| Buccal frenulae | - | - |
| Lingual hamartomas | - | - |
| Tooth abnormalities | - | - |
| Cerebellar hypoplasia | - | - |
| Corpus callosum agenesis | - | - |
| Hydrocephalus | - | - |
| Porencephaly | - | - |
| Arachnoid cysts | - | - |
| Hands/Feet | ||
| Brachydactyly | - | - |
| Clinodactyly | - | - |
| Syndactyly | - | - |
| Polydactyly | - | - |
| Polycystic kidney disease | + | + |
| Renal function abnormal | + | + |
| Scr (μmol/L) | 433-589 | 382-564 |
| BUN (mmol/L) | 20.2-28.2 | 17.1-26.6 |
| Proteinuria | + | + |
| Microalbuminuria (mg/L) | 291 | 128 |
| α1-microglobinuria (mg/L) | 194 | 180 |
| Low molecular weight proteinuria (%) | 35.7 | 42.1 |
| Hematuria | - | - |
| Mental retardation | - | - |
- Citation: Zhang HW, Su BG, Yao Y. OFD1 mutation induced renal failure and polycystic kidney disease in a pair of childhood male twins in China. World J Clin Cases 2020; 8(2): 331-336
- URL: https://www.wjgnet.com/2307-8960/full/v8/i2/331.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v8.i2.331