Phenotype #0000227630
| Individual ID |
00300319 |
| Associated disease |
OI |
| Phenotype details |
onset fractures 7d; fractures different sites both upper and lower limbs (7y->30 fractures); 1d-contracture both elbows, wrists, knees and ankles, bilateral talipes; pterygium both elbows, knees and axilla; protruding chest with flaring lower ribs; kyphoscoliosis; white sclera; high arched palate, enamel hypoplasia and hypocalcification, dental caries; no hearing impairment; severe bowing bones, bilateral clasped thumbs, arachnodactyly; delayed gross motor development, 7y-no unsupported standing; 16m-eight 9 kg (-2.1SD), length 72.0 cm (-3.0SD), OFC 45.8 cm (-1.3SD); 7y-weight 16.6 kg (-2.2SD), length 101.0 cm (-3.6SD), OFC 51.4 cm (-0.5SD); Wormian bones skull; severe platyspondyly, coronal clefts, widening metaphyses, multiple fractures with callus formation and angulation both humeri and femora, fair bone modelling; 4y-osteopenia spine (Z-score: -1.23), osteopenia femur (Z-score: -1.52) |
| Diagnosis/Initial |
Bruck syndrome |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
BRKS2 |
| Age/Examination |
- |
| Age/Onset |
7d |
| 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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