[Painful hip joint with epiphyseal dysplasia (author's transl)]. 1980

S Inoue, and H Tagawa, and S Ninomiya, and Y Miyanaga

Among patients who visited our hip clinic, eighteen patients from ten families were diagnosed as mild or atypical cases of spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia. Clinical and X-ray examinations of these patients showed common characteristic features as follows. 1. They usually had short stature but were not dwarfs. Their facial features and body proportions did not suggest hereditary bone dysplasia. 2. Although the disease might be transmitted in an autosomal dominant manner, its occurrence among these families was found to be sporadic. 3. Symptoms of the hip joint mainly resulted from limited range of motion, coxalgia being usually less than expected from X-ray findings. 4. Joints were always affected bilaterally although the degree might be different on each side. 5. In the majority of the cases, the spine, shoulder (in 7 cases), knee (in 6 cases), elbow (in 3 cases), ankle, and wrist joint (in 2 cases) were also affected. 6. Characteristic X-ray findings of the hip joints were as follows. a) Coxa vara, flattening or rectanglar deformity of the femoral head and shortening of the femoral neck. b) The trabecular pattern of the femoral head was irregular and subchondral cysts were often observed. c) Joint space was relatively better restored than expected from the deformity and subchondral bony changes of the femoral head. Spondyloepiphyseal dysplasia and multiple epiphyseal dysplasia are genetic disorders of the epiphyseal and apophyseal cartilage. The hip joint is loading greater mechanical force than any other joint. In both spondyloepiphyseal dysplasia and multiple epiphyseal dysplasia, the hip joint is always affected. As the hip joint is most vulnerable when there is some disorder of the epiphyseal cartilage, it is probably the only detectable abnormal joint. In relatively short period (1972-1978), the diagnosis of mild or atypical spondyloepiphyseal dysplasia was made in 18 patients in our hip clinic. This means that the mild or atypical cases of spondyloepiphyseal dysplasia is not so rare as expected. They might be misdiagnosed as aseptic necrosis, deformity of the femoral head due to Perthes disease or primary osteoarthrosis. An extreme care should be taken when we examine such patients.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002806 Chondrodysplasia Punctata A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form. Chondrodystrophia Calcificans Congenita,Conradi-Hunermann Syndrome,Dysplasia Epiphysialis Punctata,Epiphyses, Stippled,Stippled Epiphyses,Chondrodysplasia Punctata 2, X-Linked,Chondrodysplasia Punctata 2, X-Linked Dominant,Conradi Hunermann Happle Syndrome,Conradi-Hunermann-Happle Syndrome,Conradi-Hünermann Syndrome,Conradi-Hünermann-Happle Syndrome,Happle Syndrome,Hunermann-Conradi Syndrome,X-Linked Chondrodysplasia Punctata 2,X-Linked Dominant Chondrodysplasia Punctata,Chondrodysplasia Punctata 2, X Linked,Chondrodysplasia Punctata 2, X Linked Dominant,Conradi Hunermann Syndrome,Conradi Hünermann Happle Syndrome,Conradi Hünermann Syndrome,Conradi-Hunermann-Happle Syndromes,Conradi-Hünermann Syndromes,Conradi-Hünermann-Happle Syndromes,Hunermann Conradi Syndrome,X Linked Chondrodysplasia Punctata 2,X Linked Dominant Chondrodysplasia Punctata
D005260 Female Females
D006621 Hip Joint The joint that is formed by the articulation of the head of FEMUR and the ACETABULUM of the PELVIS. Acetabulofemoral Joint,Acetabulofemoral Joints,Hip Joints,Joint, Acetabulofemoral,Joint, Hip,Joints, Acetabulofemoral,Joints, Hip
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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