Phenotype #0000268928
| Individual ID |
00373655 |
| Associated disease |
OI |
| Phenotype details |
height 83.5 cm (−3), weight 10.2 kg (−3.5), OFC 50.5 cm (1.1); Wormian bones; prenatal fractures, 21d-first fracture, >2 sustained fractures, 4y-last fracture; sclera blue; dentinogenesis imperfecta; joint hypermobility; no hearing impairment; Barrel shaped chest deformity, asymmetrical mild carinatum, increased A‐P; mild mitral and tricuspid regurgitation; vertebral fractures; scoliosis; no bowing of upper extremities, bowing of lower extremities, no shortening of upper extremities, no shortening of lower extremities, no surgical correction for bone deformation; 2m-bisphosphonate treatment; no vascular abnormalities; normal skin/nails; CT head normal; mobility walks; hypotonia; no muscle weakness; speech delay; motor delay; 2 family miscarriages |
| Diagnosis/Initial |
osteogenesis imperfecta |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
OI21 |
| Age/Examination |
04y03m (4 years, 3 months) |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-05-17 20:01:22 +02:00 (CEST) |
| Date last edited |
N/A |
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