title: [Clinical and radiologic study of hereditary diseases of the femoral epiphysis].
abstract: The diseases that involve the proximal femoral epiphysis are an heterogeneous group with similar clinical characteristics, so it is important to establish a differential diagnosis to bring suitable management and genetic counseling. The present study includes 33 patients: eleven with multiple epiphyseal dysplasia (MED), five with spondylo-epiphyseal dysplasia (SED), twelve with unilateral Perthes disease (PD uni) and five with bilateral Perthes disease (PD bi). The clinical study showed that affected relatives and associated clinical manifestations were more frequent in the dysplastic patients. The somatometric profile of the 17 PD patients was within two standard deviations of the average, whereas the dysplastic patients showed short stature. In the radiological study all patients had one or both proximal femoral epiphysis affected. All the dysplastic patients had other irregular or flattened epiphysis, but only half of those with PD showed mild flattening or distal femoral epiphysis. Eight of 29 patients had a delay in bone maturity, and all patients had mild flattened vertebras. We think this study shows the importance of having sufficient clinic and radiologic criteria to establish the differential diagnosis in view of the heterogeneity of these entities.
authors.affiliation: Departamento de Genética, Instituto Nacional de Perinatología, México, D.F.
authors.forename: D G
authors.initials: DG
authors.lastname: Mayén
authors.forename: A
authors.initials: A
authors.lastname: Carnevale
authors.forename: R
authors.initials: R
authors.lastname: Takenaga
authors.forename: A
authors.initials: A
authors.lastname: Lizalde
authors.forename: V
authors.initials: V
authors.lastname: del Castillo
mesh_terms: D000293:Adolescent; D002648:Child; D002806:Chondrodysplasia Punctata / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D005270:Femur Head; D006801:Humans; D007873:Legg-Calve-Perthes Disease / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011859:Radiography
vernacular_title: Estudio clínico y radiológico de las enfermedades hereditarias de la epifisis femoral.