Phenotype #0000325616
| Individual ID |
00435422 |
| Associated disease |
OI |
| Phenotype details |
birth height SD-0.7; height SD-2; grey sclerae; broadening of wrist; no torticollis; hip dislocation; short stature; bowing on lower extremities; 7m15d-initial radiological findings; generalised osteopaenia; shallow acetabulum; enlarged proximal metaphysis femur with medial part beak-shaped; cupping, irregular, wide metaphysis lower limb bones; cortical bone erosion and femoral new bone formation; large femoral head; 2m-head control, 9m-sit, 18m-walk; speech on time; good school performance; 3y9m-fracture right femur, 4y6m-left femur, 5y-right femur; grey sclerae; increased lumbar lordosis; mild genu valgum; truncal obesity; no insulin resistance; acanthosis nigricans; osteopaenia; mild platyspondyly; mild femoral bowing; coxa vara |
| Diagnosis/Initial |
osteogenesis imperfecta |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
8y (8 years) |
| Age/Onset |
27m |
| 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 |
2023-07-24 18:55:57 +02:00 (CEST) |
| Date last edited |
N/A |
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