Phenotype #0000227629
| Individual ID |
00300318 |
| Associated disease |
OI |
| Phenotype details |
onset fractures birth; 8 fractures forearm and femora; 1d-contracture both knees with dimples over the lateral side both knees, bilateral talipes; pterygium both knees; pectus carinatum; scoliosis; faint blue sclera (likee the mother); high arched palate; no hearing impairment; unilateral simian crease; bilateral bowing femora, bilateral clasped thumbs; delayed gross motor development, 18m-no unsupported sitting, 16m-crawling; 3m-weight 4.4 kg (-1.8SD), length 55.0 cm (-2.0SD), OFC 36.8 cm (-2.0SD); 11m-weight 7.5 kg (-3.0SD), length 67.0 cm (-3.5SD), OFC 41.9 cm (-3.0SD); Wormian bones skull; multiple old fractures different sites long bones and ribs, wedging vertebral aspect L3, bowing femora, tibiae and fibulae, fracture mid shaft femur with callus formation, good bone modelling; 9m-borderline osteoporosis femur (Z-score: -1.85), osteopenia spine (Z-score: -1.18) |
| Diagnosis/Initial |
Bruck syndrome |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
BRKS1 |
| Age/Examination |
- |
| Age/Onset |
1d |
| 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 |
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