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A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date.
Gregson CL, Hollingworth P, Williams M, Petrie KA, Bullock AN, Brown MA, Tobias JH, Triffitt JT. Gregson CL, et al. Bone. 2011 Mar 1;48(3):654-8. doi: 10.1016/j.bone.2010.10.164. Epub 2010 Oct 29. Bone. 2011. PMID: 21044902 Free PMC article.
Absence of great toe malformations, the presence of early ossification of the cervical spine facets joints, plus mild bilateral camptodactyly of the 5th fingers, together with a novel ACVR1 mutation, are consistent with the 'FOP-variant' syndrome. ...Modelling of th …
Absence of great toe malformations, the presence of early ossification of the cervical spine facets joints, plus mild bilateral ca …
Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?
Crisponi G. Crisponi G. Am J Med Genet. 1996 Apr 24;62(4):365-71. doi: 10.1002/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723066
This work describes an autosomal recessive syndrome observed over the past 25 years in 17 newborn babies (8 males, 9 females), from 12 different families in Southern Sardinia. ...All patients present facial anomalies such as large face, chubby cheeks, broad nose with antev …
This work describes an autosomal recessive syndrome observed over the past 25 years in 17 newborn babies (8 males, 9 females), from 1 …
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.
Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V. Dagoneau N, et al. Am J Hum Genet. 2007 May;80(5):966-70. doi: 10.1086/513608. Epub 2007 Mar 13. Am J Hum Genet. 2007. PMID: 17436251 Free PMC article.
Crisponi syndrome is a rare autosomal recessive disorder characterized by congenital muscular contractions of facial muscles, with trismus in response to stimuli, dysmorphic features, bilateral camptodactyly, major feeding and respiratory difficulties, and access of …
Crisponi syndrome is a rare autosomal recessive disorder characterized by congenital muscular contractions of facial muscles, with trismus i …