Phenotype #0000227634

Individual ID	00300323
Associated disease	OI
Phenotype details	onset fractures 2y; average 10 fractures/year, mainly lower limbs; no contractures; no pterygium; deformed chest with flaring ribs; severe kyphoscoliosis thoracic and lumbar vertebrae; white sclera; no oro-dental anomalies; no hearing impairment; generalized hypotonia, muscle wasting, partial ptosis eye lids, short philtrum, macrostomia, thick lips, thick upper ear helices, short neck; dislocation left shoulder joint, prominent clavicles, arachnodactyly fingers, prominent knee joints, anterior bowing right leg, bilateral clinodactyly 5th toes; difficulty walking with limping; 12y-weight normal range, length -4.3SD, OFC normal range; Wormian bones skull; diffuse decreased bone texture, thin long bones upper and lower limbs, multiple malunited fractures lower limbs with callus formation, bowing tibia and fibulae, metaphyseal widening lower ends femora, crowded deformed ribs; 15y-osteoporosis left hip (Z-score: -2.29), osteopenia spine (Z-score: -1.34)
Diagnosis/Initial	osteogenesis imperfecta
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	OI III
Age/Examination	-
Age/Onset	2y
Phenotype/Onset	recurrent fractures
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-01 10:04:19 +02:00 (CEST)
Date last edited	N/A