Phenotype #0000227636
| Individual ID |
00300325 |
| Associated disease |
OI |
| Phenotype details |
onset fractures 3m; 25-30 fractures in limbs (more right femur); cervical contracture (torticollis) during first month life; no pterygium; normal chest; no scoliosis; greyish-blue sclera; no oro-dental anomalies; no hearing impairment; bilateral palpebral ptosis, corrected strabismus; bowing right femur with external rotation hips, corrected tibial bowing; delayed gross motor development, 9m-sit, 15m-walk, 20m-lost ability to walk, 7y-walk with aid; weight normal range, length normal range, OFC normal range; Wormian bones skull; decreased bone density, more severe in limbs, bowing femur and tibias, fractures femora at different ages healing; 3y-generalized osteoporosis (Z-score: -3.5), 4y-generalized osteopenia (Z-score: -1.4), 5y-generalized osteopenia (Z-score: -0.84) |
| Diagnosis/Initial |
Bruck syndrome |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
BRKS2 |
| Age/Examination |
- |
| Age/Onset |
3m |
| Phenotype/Onset |
bone fragility, postnatal mobility problems |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-05-01 10:04:19 +02:00 (CEST) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
