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Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP. Cameron-Christie SR, et al. Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805041 Free PMC article.
Spondylocarpotarsal synostosis syndrome (SCTS) is characterized by intervertebral fusions and fusion of the carpal and tarsal bones. ...
Spondylocarpotarsal synostosis syndrome (SCTS) is characterized by intervertebral fusions and fusion of the carpal and …
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.
Salian S, Shukla A, Shah H, Bhat SN, Bhat VR, Nampoothiri S, Shenoy R, Phadke SR, Hariharan SV, Girisha KM. Salian S, et al. Clin Genet. 2018 Jul;94(1):159-164. doi: 10.1111/cge.13252. Epub 2018 Apr 14. Clin Genet. 2018. PMID: 29566257
Spondylocarpotarsal synostosis syndrome is characterized by disproportionate short stature, vertebral anomalies and fusion of carpal and tarsal bones. ...We report clinical features of 10 additional patients from 7 families with spondylocarpotarsal …
Spondylocarpotarsal synostosis syndrome is characterized by disproportionate short stature, vertebral anomalies and fus …
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.
Isidor B, Cormier-Daire V, Le Merrer M, Lefrancois T, Hamel A, Le Caignec C, David A, Jacquemont S. Isidor B, et al. Am J Med Genet A. 2008 Jun 15;146A(12):1593-7. doi: 10.1002/ajmg.a.32217. Am J Med Genet A. 2008. PMID: 18470895
Spondylocarpotarsal synostosis syndrome (SCT) (OMIM 272460), originally thought to be a failure of normal spine segmentation, is characterized by progressive fusion of vertebras and associates unsegmented bars, scoliosis, short stature, carpal and tarsal syno …
Spondylocarpotarsal synostosis syndrome (SCT) (OMIM 272460), originally thought to be a failure of normal spine segment …
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
Yang CF, Wang CH, Siong H'ng W, Chang CP, Lin WD, Chen YT, Wu JY, Tsai FJ. Yang CF, et al. Hum Mutat. 2017 May;38(5):540-547. doi: 10.1002/humu.23186. Epub 2017 Feb 27. Hum Mutat. 2017. PMID: 28145000
Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis, carpal/tarsal synostosis, and lack of rib anomalies. ...
Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupte …
Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies.
Coêlho KE, Ramos ES, Felix TM, Martelli L, de Pina-Neto JM, Niikawa N. Coêlho KE, et al. Am J Med Genet. 1998 Apr 28;77(1):12-5. doi: 10.1002/(sici)1096-8628(19980428)77:1<12::aid-ajmg3>3.0.co;2-n. Am J Med Genet. 1998. PMID: 9557886 Review.
Spondylocarpotarsal synostosis syndrome (SSS) or congenital synspondylism is a recently delineated clinical entity. ...
Spondylocarpotarsal synostosis syndrome (SSS) or congenital synspondylism is a recently delineated clinical entity. ...
Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.
Fukushima K, Parthasarathy P, Wade EM, Morgan T, Gowrishankar K, Markie DM, Robertson SP. Fukushima K, et al. Genes (Basel). 2021 Apr 5;12(4):528. doi: 10.3390/genes12040528. Genes (Basel). 2021. PMID: 33916386 Free PMC article.
Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. ...
Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature …
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.
Steiner C, Ehtesham N, Taylor KD, Sebald E, Cantor R, King LM, Guo X, Hang T, Hu MS, Cui JR, Friedman B, Norato D, Allanson J, Honeywell C, Mettler G, Field F, Lachman R, Cohn DH, Krakow D. Steiner C, et al. J Med Genet. 2004 Apr;41(4):266-9. doi: 10.1136/jmg.2003.012252. J Med Genet. 2004. PMID: 15060099 Free PMC article.
Spondylocarpotarsal synostosis syndrome is a rare autosomal recessive disorder characterised by vertebral fusions, frequently manifesting as an unsegmented vertebral bar, as well as fusions of the carpal and tarsal bones. ...
Spondylocarpotarsal synostosis syndrome is a rare autosomal recessive disorder characterised by vertebral fusions, freq …
Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation.
Breitling M, Lemire EG, Rabin M. Breitling M, et al. Pediatr Radiol. 2006 Aug;36(8):866-9. doi: 10.1007/s00247-006-0181-7. Epub 2006 Jun 8. Pediatr Radiol. 2006. PMID: 16761119
Spondylocarpotarsal synostosis syndrome (SSS) is a rare autosomal recessive condition characterized primarily by vertebral malsegmentation, carpal/tarsal coalition, and a dysmorphic appearance. ...
Spondylocarpotarsal synostosis syndrome (SSS) is a rare autosomal recessive condition characterized primarily by verteb …
Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar).
Al Kaissi A, Ghachem MB, Nassib N, Ben Chehida F, Kozlowski K. Al Kaissi A, et al. Skeletal Radiol. 2005 Jun;34(6):364-6. doi: 10.1007/s00256-004-0869-4. Epub 2004 Nov 16. Skeletal Radiol. 2005. PMID: 15891931
Spondylocarpotarsal synostosis syndrome (SSS) is characterised by malsegmentation of the thoracic spine and carpal/tarsal fusions. ...
Spondylocarpotarsal synostosis syndrome (SSS) is characterised by malsegmentation of the thoracic spine and carpal/tars …
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Hakonen AH, Lehtonen J, Kivirikko S, Keski-Filppula R, Moilanen J, Kivisaari R, Almusa H, Jakkula E, Saarela J, Avela K, Aittomäki K. Hakonen AH, et al. Am J Med Genet A. 2020 Nov;182(11):2605-2610. doi: 10.1002/ajmg.a.61836. Epub 2020 Sep 9. Am J Med Genet A. 2020. PMID: 32902138
Recessive MYH3 variants have been previously associated with spondylocarpotarsal synostosis syndrome. Our findings now highlight multiple pterygia as an important feature in patients with recessive MYH3 variants. ...
Recessive MYH3 variants have been previously associated with spondylocarpotarsal synostosis syndrome. Our findings now …
11 results