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69 results

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Page 1
Joint hypermobility syndromes.
Raff ML, Byers PH. Raff ML, et al. Curr Opin Rheumatol. 1996 Sep;8(5):459-66. doi: 10.1097/00002281-199609000-00012. Curr Opin Rheumatol. 1996. PMID: 8941450 Review.
Inherited connective tissue disorders, among them Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, and Larsen syndrome, are characterized by generalized joint hypermobility. ...
Inherited connective tissue disorders, among them Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, and Larsen syn …
Larsen syndrome.
Gupta N, Kabra M. Gupta N, et al. Indian Pediatr. 2008 Sep;45(9):783-4. Indian Pediatr. 2008. PMID: 18820390 No abstract available.
An orthodontic perspective on Larsen syndrome.
Yasunaga M, Ishikawa H, Yanagita K, Tamaoki S. Yasunaga M, et al. BMC Oral Health. 2021 Mar 10;21(1):111. doi: 10.1186/s12903-021-01454-x. BMC Oral Health. 2021. PMID: 33691679 Free PMC article.
BACKGROUND: Larsen syndrome (LS) is a rare disorder of osteochondrodysplasia. ...
BACKGROUND: Larsen syndrome (LS) is a rare disorder of osteochondrodysplasia. ...
Review of cervical spine anomalies in genetic syndromes.
McKay SD, Al-Omari A, Tomlinson LA, Dormans JP. McKay SD, et al. Spine (Phila Pa 1976). 2012 Mar 1;37(5):E269-77. doi: 10.1097/BRS.0b013e31823b3ded. Spine (Phila Pa 1976). 2012. PMID: 22045003 Review.
The information is presented in the following order: First, the identification and treatment of midcervical kyphosis in Larsen syndrome and diastrophic dysplasia (DD). Next, the upper cervical abnormalities seen in Down syndrome, 22q11.2 Deletion syndrome, pseudoach …
The information is presented in the following order: First, the identification and treatment of midcervical kyphosis in Larsen syn …
Larsen syndrome--lethal variety.
Kulkarni ML, Mohammed Z, Kulkarni PM. Kulkarni ML, et al. Indian J Pediatr. 2005 Dec;72(12):1053-4. Indian J Pediatr. 2005. PMID: 16388157
Larsen syndrome is a condition characterized by generalized defect in collagen formation. Autosomal dominant, autosomal recessive and even sporadic fresh mutations have been reported. Very few cases of lethal variety of Larsen syndrome have been report …
Larsen syndrome is a condition characterized by generalized defect in collagen formation. Autosomal dominant, autosomal recess …
FKBP14 kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case report.
Wiegand A, Kastury R, Neogi A, Mani A, Bale A, Cox A. Wiegand A, et al. Cold Spring Harb Mol Case Stud. 2023 Jul 11;9(3):a006281. doi: 10.1101/mcs.a006281. Print 2023 Jun. Cold Spring Harb Mol Case Stud. 2023. PMID: 37433679 Free PMC article.
Molecular testing has increased the ability to categorize and diagnose distinct hereditary connective tissue disorders. A 42-yr-old female with a clinical diagnosis of Larsen syndrome from birth presented for genetic testing based on her recent diagnosis of premenop …
Molecular testing has increased the ability to categorize and diagnose distinct hereditary connective tissue disorders. A 42-yr-old female w …
Spine deformities in rare congenital syndromes: clinical issues.
Campbell RM Jr. Campbell RM Jr. Spine (Phila Pa 1976). 2009 Aug 1;34(17):1815-27. doi: 10.1097/BRS.0b013e3181ab64e9. Spine (Phila Pa 1976). 2009. PMID: 19644333 Review.
Arthrogryposis may be associated with a severe scoliosis and jaw contracture may make intubation difficult. Larsen syndrome may have early onset scoliosis that is very rigid and requires early intervention. ...
Arthrogryposis may be associated with a severe scoliosis and jaw contracture may make intubation difficult. Larsen syndrome ma …
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.
Riise N, Lindberg BR, Kulseth MA, Fredwall SO, Lundby R, Estensen ME, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B. Riise N, et al. BMC Med Genet. 2018 Aug 31;19(1):155. doi: 10.1186/s12881-018-0671-0. BMC Med Genet. 2018. PMID: 30170566 Free PMC article.
BACKGROUND: Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. ...CONCLUSION: LDS should be considered in patients with a clinical diagnosis of Larsen syndro …
BACKGROUND: Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocatio …
Spine malformation complex in 3 diverse syndromic entities: Case reports.
Kaissi AA, van Egmond-Fröhlich A, Ryabykh S, Ochirov P, Kenis V, Hofstaetter JG, Grill F, Ganger R, Kircher SG. Kaissi AA, et al. Medicine (Baltimore). 2016 Dec;95(50):e5505. doi: 10.1097/MD.0000000000005505. Medicine (Baltimore). 2016. PMID: 27977582 Free PMC article.
DIAGNOSES: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). INTERVENTIONS: Surgical intervention …
DIAGNOSES: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic …
Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.
Handa A, Grigelioniene G, Nishimura G. Handa A, et al. Radiographics. 2023 May;43(5):e220067. doi: 10.1148/rg.220067. Radiographics. 2023. PMID: 37053103
The prototypes of bone dysplasia families include dysostosis multiplex family, achondroplasia family, spondyloepiphyseal dysplasia congenita family, and Larsen syndrome-otopalatodigital syndrome family. Since Spranger's proposal, the concept of bone dysplasia famili …
The prototypes of bone dysplasia families include dysostosis multiplex family, achondroplasia family, spondyloepiphyseal dysplasia congenita …
69 results