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Page 1
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.
Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, Åström E, Nordenskjöld M, Nordgren A, Mäkitie O. Grigelioniene G, et al. Am J Med Genet A. 2014 Jul;164A(7):1635-41. doi: 10.1002/ajmg.a.36502. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24677493 Review.
The purpose of this study was to describe a large Swedish family with brachyolmia type 3 due to a heterozygous TRPV4 mutation c.1847G>A (p.R616Q) in 11 individuals. The mutation has previously been detected in another family with autosomal dominant brachyolmia [R …
The purpose of this study was to describe a large Swedish family with brachyolmia type 3 due to a heterozygous TRPV4 mutation c.1847G …
Familial brachyolmia.
Darcan S, Yalman O, Coker M, Demir N, Ozkinay F. Darcan S, et al. J Pediatr Endocrinol Metab. 2000 Jul-Aug;13(7):955-8. doi: 10.1515/jpem.2000.13.7.955. J Pediatr Endocrinol Metab. 2000. PMID: 10968486
Brachyolmia is characterized clinically by short stature and radiographically by generalized platyspondyly without significant long bone abnormalities. ...According to the physical and radiological findings, the patients were evaluated as brachyolmia....
Brachyolmia is characterized clinically by short stature and radiographically by generalized platyspondyly without significant long b …
Brachyolmia and spinal stenosis.
Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M. Mukamel M, et al. Am J Med Genet A. 2003 Jul 15;120A(2):272-5. doi: 10.1002/ajmg.a.20204. Am J Med Genet A. 2003. PMID: 12833413
Brachyolmia is a rare short-trunk short stature skeletal dysplasia characterized by generalized platyspondyly without significant epiphyseal or metaphyseal changes in the long bones. This group of skeletal dysplasia is heterogeneous and four types have been differentiated …
Brachyolmia is a rare short-trunk short stature skeletal dysplasia characterized by generalized platyspondyly without significant epi …
Autosomal dominant brachyolmia: transient metaphyseal striations.
Lim YJ, Lee HR, Kim OH, Cho TJ, Park KB. Lim YJ, et al. Skeletal Radiol. 2017 Sep;46(9):1297-1300. doi: 10.1007/s00256-017-2684-8. Epub 2017 Jun 10. Skeletal Radiol. 2017. PMID: 28601949
We report transient proximal and distal femoral metaphyseal striations that have not previously been described in autosomal dominant brachyolmia. The pelvis/hip radiograph of a 13-year-old boy demonstrated bilaterally symmetrical proximal femoral metaphyseal vertical stria …
We report transient proximal and distal femoral metaphyseal striations that have not previously been described in autosomal dominant brac …
First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta.
Nouara F, Amalou G, Bouzidi A, Charif M, Charoute H, Lenaers G, El Arabi S, Bousfiha B, Barakat A. Nouara F, et al. Arch Oral Biol. 2022 Oct;142:105518. doi: 10.1016/j.archoralbio.2022.105518. Epub 2022 Aug 6. Arch Oral Biol. 2022. PMID: 35998423
The 2 patients from the first family had dental anomalies and short stature syndrome, brachyolmia and nephrocalcinosis with difference in severity, while the proband of the second family had Hypoplastic Amelogenesis Imperfecta with a suspicion of brachyolmia. ...
The 2 patients from the first family had dental anomalies and short stature syndrome, brachyolmia and nephrocalcinosis with differenc …
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P; Deciphering Developmental Disorders Study; Smithson S. Bownass L, et al. Am J Med Genet A. 2019 Sep;179(9):1884-1894. doi: 10.1002/ajmg.a.61282. Epub 2019 Jul 16. Am J Med Genet A. 2019. PMID: 31313512 Free article.
Brachyolmia is a skeletal dysplasia characterized by short spine-short stature, platyspondyly, and minor long bone abnormalities. ...Low serum DHEAS, but not overt androgen excess was identified. Our study indicates that autosomal recessive brachyolmia occurs across …
Brachyolmia is a skeletal dysplasia characterized by short spine-short stature, platyspondyly, and minor long bone abnormalities. ... …
Autosomal recessive brachyolmia: early radiological findings.
Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G. Handa A, et al. Skeletal Radiol. 2016 Nov;45(11):1557-60. doi: 10.1007/s00256-016-2458-8. Epub 2016 Aug 21. Skeletal Radiol. 2016. PMID: 27544198
Brachyolmia (BO) is a heterogeneous group of skeletal dysplasias with skeletal changes limited to the spine or with minimal extraspinal features. ...
Brachyolmia (BO) is a heterogeneous group of skeletal dysplasias with skeletal changes limited to the spine or with minimal extraspin …
A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.
Flex E, Imperatore V, Carpentieri G, Bruselles A, Ciolfi A, Pizzi S, Tedesco MG, Rogaia D, Mencarelli A, Di Cara G, Verrotti A, Troiani S, Merla G, Tartaglia M, Prontera P. Flex E, et al. Genes (Basel). 2021 Sep 12;12(9):1406. doi: 10.3390/genes12091406. Genes (Basel). 2021. PMID: 34573388 Free PMC article.
In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. ...We also compare the genotypes and phenotypes of patients reported to date. This work provides further evidence th …
In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a …
Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?
Tüysüz B, Ungür S. Tüysüz B, et al. Am J Med Genet A. 2003 Jun 15;119A(3):375-80. doi: 10.1002/ajmg.a.20125. Am J Med Genet A. 2003. PMID: 12784309
Although short trunk stature and severe rectangular platyspondyly without significant epiphyseal or metaphyseal changes were in favor of Hobaek type brachyolmia, this diagnosis was not considered, both because, there were no specific radiological findings of this syndrome, …
Although short trunk stature and severe rectangular platyspondyly without significant epiphyseal or metaphyseal changes were in favor of Hob …
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.
Weinstein MM, Kang T, Lachman RS, Bamshad M, Nickerson DA, Krakow D, Cohn DH. Weinstein MM, et al. Am J Med Genet A. 2016 Dec;170(12):3298-3302. doi: 10.1002/ajmg.a.37942. Epub 2016 Aug 17. Am J Med Genet A. 2016. PMID: 27530454 Free PMC article.
Dominant mutations in TRPV4, which encodes the Transient Receptor Potential Cation Channel Subfamily V Member 4 calcium channel, result in a series of musculoskeletal disorders that include a set of peripheral neuropathies and a broad phenotypic spectrum of skeletal dysplasias. T …
Dominant mutations in TRPV4, which encodes the Transient Receptor Potential Cation Channel Subfamily V Member 4 calcium channel, result in a …
22 results