Phenotype #0000227631

Individual ID	00300320
Associated disease	OI
Phenotype details	onset fractures 9m; fractures both femora; 1d-contracture both knees, talipes deformity; pterygium both knees; narrow chest with flaring lower ribs; mild kyphoscoliosis; white sclera; high arched palate, enamel hypocalcification; no hearing impairment;; delayed gross motor development, 2y6m-no unsupported sitting; 2y6m-weight 8.5 kg (-3.0SD), OFC 46.5 cm (-2.0SD); Wormian bones skull; generalized decreased bone density, broad metaphyses, loss bone modelling, fracture upper 1/3 femur, thin tibiae and fibulae with bowing and cystic changes epiphyses lower femur, upper and lower tibiae, contracture knees, old fractures ribs, scoliosis, compressed thoracic vertebrae, deformed right clavicle, old partially united fracture right ulna, both femoral shafts with angulation, fair bone modelling;
Diagnosis/Initial	Bruck syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	BRKS2
Age/Examination	-
Age/Onset	9m
Phenotype/Onset	delayed milestones, congenital contracture deformities
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

Global Variome shared LOVD