Phenotype #0000325613

Individual ID	00435419
Associated disease	OI
Phenotype details	height SD-2.2; blue sclerae; broadening of wrist; no torticollis; no hip dislocation; no short stature; bowing on lower extremities; 6m15d-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, 16m-sit, 30m-walk; speech on time; good school performance; 14m-fracture left femur, 22m-left femur, 5y-right femur; white sclerae; increased lumbar lordosis; mild genu valgum; truncal obesity; insulin resistance; acanthosis nigricans; osteopaenia; no platyspondyly; mild femoral bowing; coxa vara
Diagnosis/Initial	osteogenesis imperfecta
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	12y6m (12 years, 6 months)
Age/Onset	6m15d
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-07-24 18:55:57 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD