Phenotype #0000227628
| Individual ID |
00300317 |
| Associated disease |
OI |
| Phenotype details |
onset fractures 4m; 4 fractures left femur; 1d-contracture both knees and elbows; pterygium both elbows and knees (antecubital and popliteal); short chest with pectus carinatum; kyphosis; white sclera; high arched palate, deep over bite; no hearing impairment; Keloid formation at both elbows from crawling, small umbilical hernia; bilateral clinodactyly 4th finger; delayed gross motor development, 6y-not able to walk; 5y10m-weight 16 kg (-1.9SD), length 97.0 cm (-3.0SD), OFC 52 cm (mean); Wormian bones skull; decreased bone density, bowing leg bones, patchy sclerotic areas increased bone girth in lower aspect left femoral shaft due to old healed fracture, fracture line traversing mid shaft left tibia associated with periosteal reaction and callus formation.; 5y10m-osteoporosis femur (Z-score: -4.16), normal spine (Z-score:-0.23) |
| Diagnosis/Initial |
Bruck syndrome |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
BRKS1 |
| Age/Examination |
- |
| Age/Onset |
4m |
| Phenotype/Onset |
congenital contractures, recurrent fractures |
| 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.
|
