Double-Layered Patella in Multiple Epiphyseal Dysplasia: A Valuable Clue in the Diagnosis

Sheffield, Eugene G.

doi:10.1097/01241398-199801000-00022

Cited by 26 publications

(25 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Double-layered patella is a form of partite patella consisting of anterior and posterior components divided by coronal septum [Sheffield, 1998]. It occurs in patients with MED, and so is a reliable sign in the diagnosis of MED [Hodkinson, 1962].…”

Section: Research Letter Double-layered Patella In Multiple Epiphyseamentioning

confidence: 99%

Double-layered patella in multiple epiphyseal dysplasia is not exclusive toDTDST mutation

et al. 2005

View full text Add to dashboard Cite

Section: Research Letter Double-layered Patella In Multiple Epiphyseamentioning

confidence: 99%

Double-layered patella in multiple epiphyseal dysplasia is not exclusive toDTDST mutation

et al. 2005

View full text Add to dashboard Cite

“…The resulting epiphyseal deformity, in conjunction with poor cartilage integrity, leads to early onset osteoarthritis in most cases [Beighton and McKusick, 1993]. Recessive forms of MED have also been described (EDM4), the clinical features of which can include normal stature, bilateral clubfeet, and double-layered patellae [Sheffield, 1998].Pseudoachondroplasia is a more severe disease and is usually diagnosed at the onset of walking with the recognition of a waddling gait. It is characterized by marked short stature and deformity of the legs, short fingers, loose joints, and ligamentous laxity.…”

mentioning

confidence: 98%

Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations

2002

View full text Add to dashboard Cite

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) constitute a bone dysplasia family, which is both genetically and phenotypically heterogeneous. The disease spectrum ranges from mild MED, which manifests with pain and stiffness in the joints and delayed and irregular ossification of the epiphyses, to the more severe PSACH, which is characterized by marked short stature, deformity of the legs, and ligamentous laxity. PSACH is almost exclusively caused by mutations in cartilage oligomeric matrix protein (COMP) whereas various forms of MED are caused by mutations in the genes encoding COMP, type IX collagen (COL9A1, COL9A2, and COL9A3), matrilin-3 (MATN3), and solute carrier member 26, member 2 gene (SLC26A2). In this review we discuss specific disease-causing mutations and the clustering of these mutations in functionally and structurally important regions of the respective gene products, genotype to phenotype correlations, and the diagnostic relevance of mutation screening in these osteochondrodysplasias.

show abstract

“…II existe également des formes congénitales caractérisées par une largeur excessive de la rotule, débor-dant les joues de la trochlée fémorale [2|. L'hypertrophie peut aussi se présenter sous la forme d'un épaississement antéro-postérieur de la rotule [2,13,[20][21][22][23], Des mesures anthropométriques ont montré que l'épaisseur moyenne de la rotule (sans tenir compte du cartilage) était proche de 25 mm [2], un peu plus importante chez Thomme (25.3 mm) que chez la femme (22.5 mm) [26]. Cette valeur est nettement inférieure à celle observée chez notre patiente (28 mm) malgré le facteur d'agrandissement radiologique (environ x l.lj.…”

Section: Discussionunclassified

Hypertrophie rotulienne: rare anomalie associée à une dysplasie polyépiphysaire

Linthoudt

2008

Praxis

View full text Add to dashboard Cite

Multiple epiphyseal dysplasia is a genotypic chondrodystrophy characterized by an abnormal shape of numerous epiphyses. Diagnosis is usually made during childhood on an abnormal gait and a reduction of joint mobility associated with radiological changes of the ossification centres. This observation reports on a woman who only consulted at adulthood. Diagnosis was based on a short stature, slight shortening of the extremities and precocious osteoarthritis on the radiographs. Lateral x-rays of the knees revealed a globular hypertrophy of both patellae. This association has rarely been mentioned. A late fusion of an antero-posterior duplication of the ossification centre of the patella seems to be the most plausible physiopathologic hypothesis. Persistence of both ossification centres could result in a coronal double-layered patella, which is also occasionally observed in patients with multiple epiphyseal dysplasia.

show abstract

Double-Layered Patella in Multiple Epiphyseal Dysplasia: A Valuable Clue in the Diagnosis

Cited by 26 publications

References 5 publications

Double-layered patella in multiple epiphyseal dysplasia is not exclusive toDTDST mutation

Double-layered patella in multiple epiphyseal dysplasia is not exclusive toDTDST mutation

Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations

Hypertrophie rotulienne: rare anomalie associée à une dysplasie polyépiphysaire

Contact Info

Product

Resources

About