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Quoted phrase not found in phrase index: "Multiple epiphyseal dysplasia, Beighton type"
Page 1
The evolution of the nosology of osteogenesis imperfecta.
Chetty M, Roomaney IA, Beighton P. Chetty M, et al. Clin Genet. 2021 Jan;99(1):42-52. doi: 10.1111/cge.13846. Epub 2020 Nov 3. Clin Genet. 2021. PMID: 32901963 Review.
In this way, improved counseling of patients and individualized, tailored therapeutic approaches based on the underlying pathophysiology of the individual's type of OI have been facilitated....
In this way, improved counseling of patients and individualized, tailored therapeutic approaches based on the underlying pathophysiology of …
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G. Leoni C, et al. Am J Med Genet A. 2021 Oct;185(10):3153-3160. doi: 10.1002/ajmg.a.62399. Epub 2021 Jun 23. Am J Med Genet A. 2021. PMID: 34159694
Biallelic mutations in B3GALT6, coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associated with various clinical conditions, causing spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1 or SEMDJL …
Biallelic mutations in B3GALT6, coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associa …
Atelosteogenesis type I: autopsy findings.
Wessels A, Wainwright HC, Beighton P. Wessels A, et al. Pediatr Dev Pathol. 2011 Nov-Dec;14(6):496-500. doi: 10.2350/11-01-0969-CR.1. Epub 2011 Oct 10. Pediatr Dev Pathol. 2011. PMID: 21985323
We have documented the clinical, radiologic, and autopsy findings of 2 fetuses with atelosteogenesis type I, aged 22 and 17 weeks. This rare autosomal dominant lethal skeletal dysplasia is caused by mutation in the FNLB gene. The 17-week-old fetus had some features …
We have documented the clinical, radiologic, and autopsy findings of 2 fetuses with atelosteogenesis type I, aged 22 and 17 weeks. Th …
Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta.
Mei Y, Jiang Y, Shen L, Meng Z, Zhang Z, Zhang H. Mei Y, et al. Orphanet J Rare Dis. 2024 Mar 12;19(1):116. doi: 10.1186/s13023-024-03089-x. Orphanet J Rare Dis. 2024. PMID: 38475860 Free PMC article.
Transthoracic echocardiography was performed in all patients and controls, and parameters were indexed for body surface area (BSA). The Beighton score was used to evaluate the degree of joint hypermobility. ...Echocardiographic abnormalities may imply that the impairment o …
Transthoracic echocardiography was performed in all patients and controls, and parameters were indexed for body surface area (BSA). The B …
Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.
Anderson IJ, Tsipouras P, Scher C, Ramesar RS, Martell RW, Beighton P. Anderson IJ, et al. Am J Med Genet. 1990 Oct;37(2):272-6. doi: 10.1002/ajmg.1320370223. Am J Med Genet. 1990. PMID: 1978986
A mild autosomal dominant form of spondyloepiphyseal dysplasia (SED) is present in several generations of a South African family of English stock. This phenotype differs from that of any other previously described. Although type II collagen defects have been found i …
A mild autosomal dominant form of spondyloepiphyseal dysplasia (SED) is present in several generations of a South African family of E …
"Osteopetrosis" in the Fairbank Collection.
Horan FT, Beighton PH. Horan FT, et al. J Bone Joint Surg Br. 1978 Feb;60(1):53-5. doi: 10.1302/0301-620X.60B1.342533. J Bone Joint Surg Br. 1978. PMID: 342533
Nine patients proved to have the classical autosomal dominant form of osteopetrosis, four had the malignant autosomal recessive type, craniometaphyseal dysplasia was present in two kindreds and isolated individuals had pyknodysostosis, atypical craniodiaphyseal d …
Nine patients proved to have the classical autosomal dominant form of osteopetrosis, four had the malignant autosomal recessive type, …
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa.
Beighton P, Versfeld GA. Beighton P, et al. Clin Genet. 1985 Apr;27(4):398-401. doi: 10.1111/j.1399-0004.1985.tb02282.x. Clin Genet. 1985. PMID: 3995789
In a survey of Black patients with osteogenesis imperfecta (OI) attending the Baragwanath Hospital, Johannesburg, the severe autosomal recessive OI type III was recognized in 21, of whom 18 lived in the Johannesburg area. By contrast only 5 had the ostensibly common mild a …
In a survey of Black patients with osteogenesis imperfecta (OI) attending the Baragwanath Hospital, Johannesburg, the severe autosomal reces …
Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.
Ballo R, Beighton PH, Ramesar RS. Ballo R, et al. Am J Med Genet. 1998 Oct 30;80(1):6-11. doi: 10.1002/(sici)1096-8628(19981102)80:1<6::aid-ajmg2>3.0.co;2-0. Am J Med Genet. 1998. PMID: 9800905
The type II collagenopathies include a wide spectrum of phenotypes ranging from mild spondylo epiphyseal dysplasia (SED) to severe achondrogenesis/hypochondrogenesis. ...In this report we discuss a South African family in which four members have a phenotype r …
The type II collagenopathies include a wide spectrum of phenotypes ranging from mild spondylo epiphyseal dysplasia (SED …
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.
Gleghorn L, Ramesar R, Beighton P, Wallis G. Gleghorn L, et al. Am J Hum Genet. 2005 Sep;77(3):484-90. doi: 10.1086/444401. Epub 2005 Jul 22. Am J Hum Genet. 2005. PMID: 16080123 Free PMC article.
Spondyloepiphyseal dysplasia (SED) encompasses a heterogeneous group of disorders characterized by shortening of the trunk and limbs. The autosomal dominant SED type Kimberley (SEDK) is associated with premature degenerative arthropathy and has been previously mappe …
Spondyloepiphyseal dysplasia (SED) encompasses a heterogeneous group of disorders characterized by shortening of the trunk and limbs. …
Osteogenesis imperfecta type III: an ancient mutation in Africa?
Viljoen D, Beighton P. Viljoen D, et al. Am J Med Genet. 1987 Aug;27(4):907-12. doi: 10.1002/ajmg.1320270417. Am J Med Genet. 1987. PMID: 3425600
In a survey of institutions for crippled persons in Zimbabwe, 58 patients with osteogenesis imperfecta (OI) were identified; 42 had the rare OI Type III. The Shona and Ndebele people, who comprise the major tribal groups in Zimbabwe, both had a similar and relatively high …
In a survey of institutions for crippled persons in Zimbabwe, 58 patients with osteogenesis imperfecta (OI) were identified; 42 had the rare …
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