Topic
Multiple joint dislocation
About: Multiple joint dislocation is a research topic. Over the lifetime, 4 publications have been published within this topic receiving 14 citations.
Papers
TL;DR: Three children exhibited the multiple joint dislocations and peculiar facies that are features characteristic of Larsen syndrome, although the natural history of their disease, radiologic characteristics, and biochemical findings differ.
Abstract: Three children exhibited the multiple joint dislocations and peculiar facies that are features characteristic of Larsen syndrome, although the natural history of their disease, radiologic characteristics, and biochemical findings differ.
8 citations
TL;DR: It is suggested that multiple joint dislocations, including the patellae, may be a sign of Lowry–Wood syndrome.
Abstract: We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: microcephaly, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation. Bilateral restricted elbow extension, knock knees and hip dislocation were also present. Radiographs showed evidence of radial dislocation due to the absence of the radial heads, lateral dislocation of both patellae, multiple epiphyseal dysplasia that was more severe at the proximal femoral epiphyses, and dislocation of both hips with severe hip dysplasia. The patient developed a behavioral disorder at age 15. Conventional karyotyping was normal (46,XY). Molecular karyotyping, performed through array-based competitive genomic hybridization, showed copy number variants that were probably benign. We suggest that multiple joint dislocations, including the patellae, may be a sign of Lowry-Wood syndrome.
7 citations
TL;DR: An unusual combination of multiple dislocations with excessive joint laxity and high congenital dislocation of the hips was found in an infant and his mother and is thought to represent a new mutation inherited as a dominant trait.
1 citations
1 Jan 2020
TL;DR: Rare case of 2 month old boy with congenital joint dislocation ( hip and shoulder ) and ultra-rare autosomal recessives related PIEZO2 disease is presented.
Abstract: The clinical presentation of congenital multiple joint dislocation in neonatal and pediatric age group is rare and may be difficult for pediatrician to reach final definitive diagnosis especially in case of syndromic and multiple joint dislocation that is not explained by birth problem or breech delivery.here , I present rare case of 2 month old boy with congenital joint dislocation ( hip and shoulder ) and ultra-rare autosomal recessives related PIEZO2 disease.
Related Topics (5)
Performance Metrics
| Year | Papers |
|---|---|
| 2020 | 1 |
| 2009 | 1 |
| 1973 | 1 |
| 1972 | 1 |