Dutch variant of Bellini metaphyseal dysplasia: report of two siblings.
Two sibling girls with cone-shaped knee epiphyses and metaphyses are described. Bone dysplasia with this rare, distinctive, radiographic finding, was first reported by Bellini and Bardare with only few cases reported thereafter. Velores et al. divided bone dysplasias with cone-shaped epiphyses and metaphyses of the knee in two entities which they named trichoscyphodysplasia and metaphyseal acroscyphodysplasia. Although the authors agree that there is more than one bone dysplasia that presents with these distinctive radiographic knee appearances, they consider that two few cases have been reported to satisfactorily classify this group of disorders.
D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D004838:Epiphyses / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D005270:Femur Head / Q000002:abnormalities / Q000000981:diagnostic imaging; D005272:Femur Neck / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007717:Knee / Q000002:abnormalities / Q000000981:diagnostic imaging; D009426:Netherlands; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013977:Tibia / Q000002:abnormalities / Q000000981:diagnostic imaging