Dysplasia epiphysealis hemimelica. A case report. 1976

G L Wolfgang, and R D Heath

Experience with a 9-year-old girl with Dysplasia Epiphysealis Hemimelica in the right lower extremity demonstrates that avoidance of confusion leading to medical--legal problems and promotion of effective management would have been possible by early recognition of the condition.

UI MeSH Term Description Entries
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
D005269 Femur The longest and largest bone of the skeleton, it is situated between the hip and the knee. Trochanter,Greater Trochanter,Lesser Trochanter,Femurs,Greater Trochanters,Lesser Trochanters,Trochanter, Greater,Trochanter, Lesser,Trochanters,Trochanters, Greater,Trochanters, Lesser
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000843 Ankle Joint The joint that is formed by the inferior articular and malleolar articular surfaces of the TIBIA; the malleolar articular surface of the FIBULA; and the medial malleolar, lateral malleolar, and superior surfaces of the TALUS. Ankle Syndesmosis,Articulatio talocruralis,Distal Tibiofibular Joint,Inferior Tibiofibular Joint,Talocrural Joint,Tibiofibular Ankle Syndesmosis,Tibiofibular Syndesmosis,Ankle Joints,Ankle Syndesmoses,Ankle Syndesmosis, Tibiofibular,Distal Tibiofibular Joints,Inferior Tibiofibular Joints,Joint, Ankle,Joints, Ankle,Syndesmosis, Ankle,Talocrural Joints,Tibiofibular Ankle Syndesmoses,Tibiofibular Joint, Distal,Tibiofibular Syndesmoses
D013628 Talus The second largest of the TARSAL BONES. It articulates with the TIBIA and FIBULA to form the ANKLE JOINT. Astragalus Bone,Os Trigonum,Astragalus Bones,Bone, Astragalus,Bones, Astragalus
D013640 Tarsal Joints The articulations between the various TARSAL BONES. This does not include the ANKLE JOINT which consists of the articulations between the TIBIA; FIBULA; and TALUS. Intertarsal Joint,Tarsal Joint,Articulationes intertarsales,Articulationes intertarseae,Intertarsal Joints,Joint, Intertarsal,Joint, Tarsal,Joints, Intertarsal,Joints, Tarsal
D013977 Tibia The second longest bone of the skeleton. It is located on the medial side of the lower leg, articulating with the FIBULA laterally, the TALUS distally, and the FEMUR proximally. Tibias

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