dysplasia

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Related to epiphyseal dysplasia: Spondyloepiphyseal dysplasia

dysplasia

[di′splā·zhə]
(pathology)
Abnormal development or growth, especially of cells.
References in periodicals archive ?
Multiple epiphyseal dysplasia is a relatively rare skeletal dysplasia characterized with early osteoarthritis (OA) resulting in joint dysfunction, particularly in knee and hip joints, and short stature in childhood.
137G>A in FLT4 ) were associated with an OMIM phenotype which can be inherited through AD ( COMP : epiphyseal dysplasia, AD, OMIM: 132400, and pseudoachondroplasia, AD, OMIM: 177170; SYNE2 : Emery-Dreifuss muscular dystrophy, AD, OMIM: 612999; EVC : Weyers acrodentaldysostosis, AD, OMIM: 193530; FLT4 : lymphedema, AD, OMIM: 153100).
Appearance of the epiphyses is delayed, and they look irregular and fragmented, which in childhood resembles what is seen in Perthes' disease or multiple epiphyseal dysplasia.
We present six cases of children with epiphyseal dysplasia of the femoral head, seen by the principal author (EVA) during a period of six years with minimum follow up at 15 months.
Bone dysplasia--Morquio's syndrome, Ellis-Van Creveld syndrome, Ollier's disease(multiple enchondromatosis), multiple hereditary exostosis, metaphyseal dysplasia, multiple epiphyseal dysplasia 8.
Pseudoachondroplasia appears to develop secondarily to a mutation within the genes encoding for cartilage oligomeric matrix protein (COMP) on chromosome 19 and is most closely related to multiple epiphyseal dysplasia (MED/EDM1), a disorder also characterized by a mutation of the COMP.
I was born with epiphyseal dysplasia, a disease that causes your joints to overgrow and your bones to become immobile.
The 12-year-old suffers from a condition called spondylo epiphyseal dysplasia, which means the ends of his bones are not properly formed.