Phenotype #0000227633
| Individual ID |
00300322 |
| Associated disease |
OI |
| Phenotype details |
onset fractures birth; fractures left clavicle, both forearms, ribs, femora; 1d-contracture both knees and elbows, camptodactyly left 4th and 5th fingers and right 5th finger, bilateral talipes deformity; pterygium both elbows and knees, webbing fingers; short chest with flaring lower ribs, pectus carinatum; scoliosis; white sclera; high arched palate, brownish discoloration teeth, dental caries; no hearing impairment; bilateral simian crease; severe bone deformities, bowing and angulations upper and lower limbs, arachnodactyly; delayed gross motor development, 5y-aided walk; 1y-weight 6.5 kg (-3.7SD), length 63.0 cm (-5.0SD), OFC 42.7 cm (-2.5SD); 6y-weight 12.0 kg (-3.4SD), length 89.0 cm (-4.8SD), OFC 49.0 cm (-2.1SD); Wormian bones skull; decreased bone density, severe bowing and angulations long bones lower limbs, cystic changes lower femoral and upper tibial metaphyses, bilateral transverse fractures femora, left transverse fractures radius and ulna, old fractures ribs, malunion femur fractures and left forearm, fracture both upper humerus, scoliosis, loss bone modelling; 1y-marked osteoporosis lumbar spine (Z-score: -5.66), proximal femur (Z-score: -5.5) and distal radius |
| Diagnosis/Initial |
Bruck syndrome |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
BRKS2 |
| 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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