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Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns.
Theroux MC, Lopez M, Olszewsky PJ, DiCindio S, Arai L, Ditro C, Bober MB, Olla OO, Uejima T, West DW, Mackenzie WG. Theroux MC, et al. Paediatr Anaesth. 2017 Jun;27(6):596-603. doi: 10.1111/pan.13101. Epub 2017 Mar 21. Paediatr Anaesth. 2017. PMID: 28321993
Fourteen of 23 (60.8%) progressively became difficult to intubate over the course of their care, with 12 out of 14 having undergone cervical spine fusion. ...
Fourteen of 23 (60.8%) progressively became difficult to intubate over the course of their care, with 12 out of 14 having undergone c …
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Krakow D, et al. Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19. Am J Hum Genet. 2009. PMID: 19232556 Free PMC article.
Mutation analysis in six out of six patients with SMDK demonstrated heterozygosity for missense mutations in TRPV4, and one mutation, predicting a R594H substitution, was recurrent in four patients. Similar to autosomal-dominant brachyolmia, the mutations altered basal cal …
Mutation analysis in six out of six patients with SMDK demonstrated heterozygosity for missense mutations in TRPV4, and one mutation, pre …
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A. Unger S, et al. Am J Med Genet A. 2011 Nov;155A(11):2860-4. doi: 10.1002/ajmg.a.34268. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964829
Sequencing of the TRPV4 gene confirmed the presence of de novo heterozygous mutations predicting G78W (Case 1), T740I (Cases 2 and 3), and K276E (Case 4). ...
Sequencing of the TRPV4 gene confirmed the presence of de novo heterozygous mutations predicting G78W (Case 1), T740I (Cases 2 and 3) …
Radiologic nosology of bone dysplasias.
Spranger J. Spranger J. Am J Med Genet. 1989 Sep;34(1):96-104. doi: 10.1002/ajmg.1320340117. Am J Med Genet. 1989. PMID: 2683785 Review.
As shown by disorders such as metatropic dysplasia or iduronidase deficiency, radiology is most important to evaluate the prognosis of a given condition....
As shown by disorders such as metatropic dysplasia or iduronidase deficiency, radiology is most important to evaluate the prognosis o …
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients.
Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae JH, Yoo WJ, Tanaka Y, Matsui Y, Takigami I, Monges S, Zabel B, Shimizu K, Nishimura G, Lausch E, Ikegawa S. Cho TJ, et al. Am J Med Genet A. 2012 Apr;158A(4):795-802. doi: 10.1002/ajmg.a.35268. Epub 2012 Mar 14. Am J Med Genet A. 2012. PMID: 22419508
There are no apparent differences in the amino acid positions affected or type of change predicted by the TRPV4 mutations responsible for the two disease spectrums; nevertheless, no fundamental phenotypic overlap has been shown between the two spectrums. ...
There are no apparent differences in the amino acid positions affected or type of change predicted by the TRPV4 mutations responsible …
Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations.
Loukin S, Su Z, Kung C. Loukin S, et al. PLoS One. 2011 May 5;6(5):e19533. doi: 10.1371/journal.pone.0019533. PLoS One. 2011. PMID: 21573172 Free PMC article.
Complexities of the results from fluorescence and electrophysiological studies have led to questions on whether channel activity is a good predictor of disease severity. Here we report on a systematic examination of 14 TRPV4 mutant alleles covering the entire SD spectrum. …
Complexities of the results from fluorescence and electrophysiological studies have led to questions on whether channel activity is a good …