Phenotype #0000325617
| Individual ID |
00435423 |
| Associated disease |
OI |
| Phenotype details |
birth height SD-0.9; height SD-2.5; blue sclerae; broadening of wrist; torticollis; no hip dislocation; short stature; bowing on lower extremities; 6m-initial radiological findings; generalised osteopaenia; severe platyspondyly; 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; 3m-head control, 8m-sit, 23m-walk; speech on time; good school performance; no fractures; 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 |
6y6m (6 years, 6 months) |
| Age/Onset |
6m |
| 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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