RESUMO
In this study, we followed-up the family with bilateral hereditary micro-epiphyseal dysplasia (BHMED) originally described by Elsbach [1959: J Bone Joint Surg [Br] 41-B:514-523]. Clinical re-examination of all available family members resulted in further delineation of the clinical and radiological phenotype, which is distinct from common multiple epiphyseal dysplasia (MED). Linkage analysis excluded EDM1, EDM2, and EDM3 as candidate genes. Linkage and mutation analysis of matrilin-3 (MATN-3) revealed a new pathogenic mutation confirming that BHMED is indeed a distinct disease entity among MED and MED-like disorders.
Assuntos
Proteínas da Matriz Extracelular/genética , Osteocondrodisplasias/genética , Adolescente , Adulto , Sequência de Aminoácidos , Estudos de Casos e Controles , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Seguimentos , Humanos , Masculino , Proteínas Matrilinas , Pessoa de Meia-Idade , Mutação , Osteocondrodisplasias/diagnóstico por imagem , Linhagem , Fenótipo , Radiografia , Alinhamento de SequênciaRESUMO
AIM: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959, is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). MATERIAL AND METHODS: We used the data of the revised pedigree with 84 family members, performed a medical history, physical examination and made a radiological evaluation for defining a clinical and radiological phenotype of BHMED family members. We used blood samples for genetic analysis. RESULTS: Although there is a clear clinical picture of the dysplasia, the radiological signs are more reliable for making the diagnosis. Especially the typical deformity of the hip and knee joint are diagnostic for BHMED. By linkage analysis we excluded linkage with the three known MED-loci (EDM1, EDM2 and EDM3). CONCLUSION: BHMED is indeed an entity that is distinct from common multiple epiphyseal dysplasia (MED), clinically, as well as radiologically and genetically.
Assuntos
Osteocondrodisplasias/diagnóstico por imagem , Adulto , Idoso , Osso e Ossos/diagnóstico por imagem , Aberrações Cromossômicas , Feminino , Genes Dominantes/genética , Predisposição Genética para Doença/genética , Humanos , Masculino , Pessoa de Meia-Idade , Osteocondrodisplasias/genética , Linhagem , Fenótipo , Radiografia , Reprodutibilidade dos TestesRESUMO
Bilateral hereditary micro-epiphyseal dysplasia (BHMED) is a distinct skeletal dysplasia with specific clinical and radiological findings. It was first published in 1959. We have re-examined the original family for further delineation of the phenotype.
