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1975 1
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Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.
Tender JAF, Ferreira CR. Tender JAF, et al. Transl Sci Rare Dis. 2018 Apr 13;3(1):37-43. doi: 10.3233/TRD-180022. Transl Sci Rare Dis. 2018. PMID: 29682451 Free PMC article.
BACKGROUND: Cerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by facial dysmorphism, cognitive impairment and distinct skeletal anomalies and has been linked to the TMCO1 defect syndrome. ...
BACKGROUND: Cerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by fac …
Cerebro-facio-thoracic dysplasia: expanding the phenotype.
Cilliers D, Alanay Y, Boduroglu K, Utine E, Tunçbilek E, Clayton-Smith J. Cilliers D, et al. Clin Dysmorphol. 2007 Apr;16(2):121-125. doi: 10.1097/MCD.0b013e328012e292. Clin Dysmorphol. 2007. PMID: 17351359
We report a further two patients with cerebro-facio-thoracic dysplasia, a rare autosomal recessive condition with thoracic costovertebral dysplasia, developmental delay and characteristic facial features. ...The second patient has hypoden …
We report a further two patients with cerebro-facio-thoracic dysplasia, a rare autosomal recessive condition wit …
Ca2+ homeostasis maintained by TMCO1 underlies corpus callosum development via ERK signaling.
Yang KY, Zhao S, Feng H, Shen J, Chen Y, Wang ST, Wang SJ, Zhang YX, Wang Y, Guo C, Liu H, Tang TS. Yang KY, et al. Cell Death Dis. 2022 Aug 4;13(8):674. doi: 10.1038/s41419-022-05131-x. Cell Death Dis. 2022. PMID: 35927240 Free PMC article.
Transmembrane of coiled-coil domains 1 (TMCO1) plays an important role in maintaining homeostasis of calcium (Ca(2+)) stores in the endoplasmic reticulum (ER). TMCO1-defect syndrome shares multiple features with human cerebro-facio-thoracic (CFT) dysplasia …
Transmembrane of coiled-coil domains 1 (TMCO1) plays an important role in maintaining homeostasis of calcium (Ca(2+)) stores in the endoplas …
A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.
Sharkia R, Zalan A, Jabareen-Masri A, Hengel H, Schöls L, Kessel A, Azem A, Mahajnah M. Sharkia R, et al. Am J Med Genet A. 2019 Jul;179(7):1338-1345. doi: 10.1002/ajmg.a.61168. Epub 2019 May 18. Am J Med Genet A. 2019. PMID: 31102500
The main clinical features of cerebro-facio-thoracic dysplasia (CFTD) syndrome, which were described over four decades ago, include facial dysmorphism, multiple malformations of the vertebrae and ribs, and intellectual disability. ...
The main clinical features of cerebro-facio-thoracic dysplasia (CFTD) syndrome, which were described over four d …
Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome).
Rufo-Campos M, Riveros-Huckstadt P, RodrIguez-Criado G, Hernández-Soto R. Rufo-Campos M, et al. Brain Dev. 2004 Apr;26(3):209-12. doi: 10.1016/S0387-7604(03)00133-5. Brain Dev. 2004. PMID: 15030912
We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris, hypertelorism, broad nasal bridge, long philtrum, micrognathia, triangu …
We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by menta …
Cerebro-facio-thoracic dysplasia: report of three cases.
Pascual-Castroviejo I, Santolaya JM, Martin VL, Rodriguez-Costa T, Tendero A, Mulas F. Pascual-Castroviejo I, et al. Dev Med Child Neurol. 1975 Jun;17(3):343-51. doi: 10.1111/j.1469-8749.1975.tb04673.x. Dev Med Child Neurol. 1975. PMID: 1204988
Three children, two girls and one boy, are described as suffering from a new syndrome, 'cerebro-facio-thoracic dysplasia'. The characteristic findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypert …
Three children, two girls and one boy, are described as suffering from a new syndrome, 'cerebro-facio-thoracic dyspl …
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, Bilge Geckinli B, Karaman A, Jhangiani SN; Centers for Mendelian Genomics; Gibbs RA, Lupski JR. Pehlivan D, et al. Eur J Hum Genet. 2014 Sep;22(9):1145-8. doi: 10.1038/ejhg.2013.291. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424126 Free PMC article.
An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that are often challenging to diagnose. Here we report a patient with a clinical diagnosis of cerebro-facio-thoracic …
An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes …