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Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.
Karakaya T, Bilgic AE, Eris D, Baser B, Mermer S, Yildiz O. Karakaya T, et al. Am J Med Genet A. 2021 Jul;185(7):2198-2203. doi: 10.1002/ajmg.a.62223. Epub 2021 Apr 29. Am J Med Genet A. 2021. PMID: 33913579
In this report, a further female patient of Filippi syndrome who additionally had a unilateral congenital talipes equinovarus (CTEV), a feature not previously recorded, is described. ...In view of the paucity of reported cases, the full spectrum of clinical findings …
In this report, a further female patient of Filippi syndrome who additionally had a unilateral congenital talipes equinovarus …
Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis.
Toriello HV, Higgins JV. Toriello HV, et al. Am J Med Genet. 1995 Jan 16;55(2):200-4. doi: 10.1002/ajmg.1320550210. Am J Med Genet. 1995. PMID: 7717418
Literature review suggested 6 possible diagnoses, including Scott craniodigital syndrome, Chitayat syndrome, Filippi syndrome, Zerres syndrome, Kelly syndrome, and Woods syndrome. ...However, based on the phenotype analysis we performed, we conclude that our patient …
Literature review suggested 6 possible diagnoses, including Scott craniodigital syndrome, Chitayat syndrome, Filippi syndrome, …
Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature.
Franceschini P, Licata D, Guala A, Di Cara G, Franceschini D. Franceschini P, et al. Genet Couns. 2002;13(3):343-52. Genet Couns. 2002. PMID: 12416644 Review.
Filippi syndrome is a specific Multiple Congenital Abnormalities/Mental Retardation (MCA/MR) complex which must not be confused with other so called "craniodigital syndromes", a heterogeneous group of pathological conditions simply lumped for the combination of diff …
Filippi syndrome is a specific Multiple Congenital Abnormalities/Mental Retardation (MCA/MR) complex which must not be confuse …
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
de Vries TI, Monroe GR, van Belzen MJ, van der Lans CA, Savelberg SM, Newman WG, van Haaften G, Nievelstein RA, van Haelst MM. de Vries TI, et al. Eur J Hum Genet. 2016 Aug;24(9):1363-6. doi: 10.1038/ejhg.2016.14. Epub 2016 Mar 9. Eur J Hum Genet. 2016. PMID: 26956253 Free PMC article.
Rubinstein-Taybi syndrome (RTS, OMIM 180849) and Filippi syndrome (FLPIS, OMIM 272440) are both rare syndromes, with multiple congenital anomalies and intellectual deficit (MCA/ID). ...
Rubinstein-Taybi syndrome (RTS, OMIM 180849) and Filippi syndrome (FLPIS, OMIM 272440) are both rare syndromes, with multiple …
An additional case of craniodigital syndrome: variable expression of the Filippi syndrome?
Orrico A, Hayek G. Orrico A, et al. Clin Genet. 1997 Sep;52(3):177-9. doi: 10.1111/j.1399-0004.1997.tb02540.x. Clin Genet. 1997. PMID: 9377808
On the basis of various pathognomic features, we conclude that our patient could be an additional case of Filippi syndrome. Moreover, newly recognised features in this patient may be due to variability in phenotypic expression....
On the basis of various pathognomic features, we conclude that our patient could be an additional case of Filippi syndrome. Mo …
Intellectual disability, unusual facial morphology and hand anomalies in sibs.
Sousa SB, Venâncio M, Chanudet E, Palmer R, Ramos L, Beales PL, Moore GE, Saraiva JM, Hennekam RC. Sousa SB, et al. Am J Med Genet A. 2013 Oct;161A(10):2401-6. doi: 10.1002/ajmg.a.36124. Epub 2013 Aug 15. Am J Med Genet A. 2013. PMID: 23949889
Despite the overlap with several known syndromes (Albright osteodystrophy; Filippi syndrome; Rubinstein-Taybi syndrome; microdeletion 2q37), we suggest this condition is previously unreported, and most likely displays an autosomal recessive pattern of inheritance. 2 …
Despite the overlap with several known syndromes (Albright osteodystrophy; Filippi syndrome; Rubinstein-Taybi syndrome; microd …
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A. Ravel A, et al. Am J Med Genet A. 2011 Apr;155A(4):880-4. doi: 10.1002/ajmg.a.33879. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416592
Differential diagnoses for mainly the Rubinstein-Taybi syndrome, the Tsukahara syndrome, the Filippi syndrome, the Feingold syndrome, and the Tonoki syndrome are discussed, and the possibility that we might be reporting a novel entity is raised. 2011 Wiley-Liss, Inc …
Differential diagnoses for mainly the Rubinstein-Taybi syndrome, the Tsukahara syndrome, the Filippi syndrome, the Feingold sy …