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Page 1
Vici syndrome: a review.
Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H. Byrne S, et al. Orphanet J Rare Dis. 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. Orphanet J Rare Dis. 2016. PMID: 26927810 Free PMC article. Review.
Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency. ...Almost 40 EPG mutations ha …
Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal …
Monosomy 1p36.
Slavotinek A, Shaffer LG, Shapira SK. Slavotinek A, et al. J Med Genet. 1999 Sep;36(9):657-63. J Med Genet. 1999. PMID: 10507720 Free PMC article. Review.
Minor cardiac malformations, cardiomyopathy, seizures, and ventricular dilatation are the more common additional findings. ...Molecular characterisation of 1p36 deletions has been undertaken in several cases, and it is likely that this condition is a contiguous gene deleti …
Minor cardiac malformations, cardiomyopathy, seizures, and ventricular dilatation are the more common additional findings. ...Molecul …
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. El-Hattab AW, et al. Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28940506 Review.
Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a multisystem disease characterized by lactic acidemia, developmental delay, and hypotonia. Other features are feeding difficulties, growth failure, m …
Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a multisystem …
Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature.
Donmez YN, Giray D, Epcacan S, Goktas E, Aypar E. Donmez YN, et al. Cardiol Young. 2022 Mar;32(3):487-490. doi: 10.1017/S1047951121003097. Epub 2021 Aug 13. Cardiol Young. 2022. PMID: 34387179 Review.
In addition to its dysmorphic features, skeletal, endocrine, gastrointestinal, haematologic, genitourinary, and nervous system has been involved. Cardiovascular features very rarely associate with Seckel syndrome. We report two patients with Seckel syndrome, one wit …
In addition to its dysmorphic features, skeletal, endocrine, gastrointestinal, haematologic, genitourinary, and nervous system has been invo …
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
Ardissone A, Tonduti D, Legati A, Lamantea E, Barone R, Dorboz I, Boespflug-Tanguy O, Nebbia G, Maggioni M, Garavaglia B, Moroni I, Farina L, Pichiecchio A, Orcesi S, Chiapparini L, Ghezzi D. Ardissone A, et al. Orphanet J Rare Dis. 2018 Apr 4;13(1):45. doi: 10.1186/s13023-018-0788-4. Orphanet J Rare Dis. 2018. PMID: 29615062 Free PMC article. Review.
Recently additional presentations including leukoencephalopathy as predominant cerebral involvement or cardiomyopathy, isolated or associated with muscular and cerebral involvement, have been reported. ...Moreover, our cases confirm the usefulness of search for common brai …
Recently additional presentations including leukoencephalopathy as predominant cerebral involvement or cardiomyopathy, isolated or as …
COXPD9 in an individual from Puerto Rico and literature review.
Alsharhan H, Muraresku C, Ganetzky RD. Alsharhan H, et al. Am J Med Genet A. 2021 Aug;185(8):2519-2525. doi: 10.1002/ajmg.a.62344. Epub 2021 May 19. Am J Med Genet A. 2021. PMID: 34008913 Review.
Similar to previously reported individuals, this reported female proband presented with psychomotor retardation, sensorineural hearing loss, hypertrophic cardiomyopathy, failure to thrive, and lactic acidosis. Further, she has additional, previously unreported, features in …
Similar to previously reported individuals, this reported female proband presented with psychomotor retardation, sensorineural hearing loss, …
Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature.
Hedberg-Oldfors C, Darin N, Oldfors A. Hedberg-Oldfors C, et al. Neuromuscul Disord. 2017 Aug;27(8):771-776. doi: 10.1016/j.nmd.2017.05.005. Epub 2017 May 8. Neuromuscul Disord. 2017. PMID: 28624465 Review.
Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive. It is caused by mutations in EPG5, which enco …
Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cata …
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.
Happle R, Daniëls O, Koopman RJ. Happle R, et al. Am J Med Genet. 1993 Oct 1;47(5):710-3. doi: 10.1002/ajmg.1320470525. Am J Med Genet. 1993. PMID: 8267001 Review.
Bilateral microphthalmia with blepharophimosis, linear lesions of dermal aplasia involving the face, and microcephaly were present in a newborn girl who died at age 9 months from cardiomyopathy resulting in ventricular fibrillation. ...This case represents a further …
Bilateral microphthalmia with blepharophimosis, linear lesions of dermal aplasia involving the face, and microcephaly were present in …
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.
del Campo M, Hall BD, Aeby A, Nassogne MC, Verloes A, Roche C, Gonzalez C, Sanchez H, Garcia-Alix A, Cabanas F, Escudero RM, Hernandez R, Quero J. del Campo M, et al. Am J Med Genet. 1999 Aug 27;85(5):479-85. doi: 10.1002/(sici)1096-8628(19990827)85:5<479::aid-ajmg9>3.3.co;2-4. Am J Med Genet. 1999. PMID: 10405446 Review.
We report on two sibs and two other unrelated patients with agenesis of corpus callosum, oculocutaneous albinism, repeated infections, and cardiomyopathy. All manifested postnatal growth retardation, microcephaly, and profound developmental delay. ...This syndrom …
We report on two sibs and two other unrelated patients with agenesis of corpus callosum, oculocutaneous albinism, repeated infections, and …