Phenotype #0000227649

Individual ID 00300341
Associated disease OI
Phenotype details no contractures at birth; no clubfeet; multiple healed and non-healed fractures in arms and ribs, 7m-bilateral cervical fractures on atlas and axis and a fracture of C4; slightly curved lower legs; Wormian bones; grey-white sclera; no scoliosis; 7m-length 68cm (+0.31), weight 6.60 kg (-1.13), OFC 40.9cm (-1.46); motor development sit with support; brachial plexus injury, torticollis secondary to fractures in cervical spine
Diagnosis/Initial Bruck syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite BRKS2
Age/Examination 7m
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-05-01 12:31:01 +02:00 (CEST)
Date last edited N/A

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