Phenotype #0000227632
| Individual ID |
00300321 |
| Associated disease |
OI |
| Phenotype details |
onset fractures birth; 8 fractures in all limbs (more lower limbs); 1d-contracture both knees and elbows (more left side), right talipes equinovalgus, camptodactyly 3-5 fingers bilaterally; pterygium both elbows, knees and axilla; short narrow protruding chest; left scoliosis thoracic vertebrae kyphosis lumbar vertebrae; white sclera; high arched palate, wide overjet; no hearing impairment; birth left shoulder dislocation resolved spontaneously, depressed medial border left scapula, bilateral clasped thumbs, internal rotation right leg, dimple on anterior surface both knees; delayed gross motor development, 2y-no unsupported sitting; 1y-weight 8.0 kg (-2.0SD), OFC 43.7 cm (-1.75SD); Wormian bones skull; irregularity both humeri (diaphyseal dysplasia), bowing both femora, fractures at different ages healing humeri, femora and ribs Kyphoscoliosis with mild compression thoracic vertebrae, loss bone modelling; 1y-osteoporosis femur (Z-score: -2.68), osteopenia spine (Z-score: -1.59) |
| 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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