Literature DB >> 3815877

Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome.

A Hernández, M G Aguirre-Negrete, S González-Flores, M C Reynoso-Luna, R Fragoso, Z Nazará, G Tapia-Arizmendi, J M Cantú.   

Abstract

A syndrome characterized by progeroid facies, multiple nevi, mild mental retardation, skin hyperextensibility, bruisability, moderate skin fragility, joint hypermobility principally in digits, is described in two unrelated patients. Electron microscopy of the skin showed some fragmentation of the elastic fibers' portion and moderate electrodensity in the amorphous portion. Since a practically identical constellation of clinical features was previously reported in three patients, the individualization of a distinct connective tissue disorder, probably autosomal dominant, with variable expressivity is concluded.

Entities:  

Mesh:

Year:  1986        PMID: 3815877     DOI: 10.1111/j.1399-0004.1986.tb01910.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  8 in total

Review 1.  Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literature.

Authors:  Eyal Reinstein; Mark Pimentel; Mitchel Pariani; Stephen Nemec; Thomas Sokol; David L Rimoin
Journal:  Eur J Med Genet       Date:  2012-07-07       Impact factor: 2.708

Review 2.  The Ehlers-Danlos syndromes.

Authors:  Fransiska Malfait; Marco Castori; Clair A Francomano; Cecilia Giunta; Tomoki Kosho; Peter H Byers
Journal:  Nat Rev Dis Primers       Date:  2020-07-30       Impact factor: 52.329

Review 3.  Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.

Authors:  Michael H Guo; Joan Stoler; Julian Lui; Ola Nilsson; Diana W Bianchi; Joel N Hirschhorn; Andrew Dauber
Journal:  Am J Med Genet A       Date:  2013-08-16       Impact factor: 2.802

Review 4.  Ehlers-Danlos syndrome and neurological features: a review.

Authors:  Salvatore Savasta; Pietro Merli; Martino Ruggieri; Lucia Bianchi; Maria Valentina Spartà
Journal:  Childs Nerv Syst       Date:  2010-08-10       Impact factor: 1.475

5.  Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

Authors:  Marco Ritelli; Chiara Dordoni; Valeria Cinquina; Marina Venturini; Piergiacomo Calzavara-Pinton; Marina Colombi
Journal:  Orphanet J Rare Dis       Date:  2017-09-07       Impact factor: 4.123

6.  Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Authors:  Stefano Giuseppe Caraffi; Ilenia Maini; Ivan Ivanovski; Marzia Pollazzon; Sara Giangiobbe; Maurizia Valli; Antonio Rossi; Silvia Sassi; Silvia Faccioli; Maja Di Rocco; Cinzia Magnani; Belinda Campos-Xavier; Sheila Unger; Andrea Superti-Furga; Livia Garavelli
Journal:  Genes (Basel)       Date:  2019-10-12       Impact factor: 4.096

Review 7.  The Ehlers-Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism.

Authors:  Tim Van Damme; Marlies Colman; Delfien Syx; Fransiska Malfait
Journal:  Genes (Basel)       Date:  2022-01-29       Impact factor: 4.096

8.  Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.

Authors:  Delia Lorenz; Wolfram Kress; Ann-Kathrin Zaum; Christian P Speer; Helge Hebestreit
Journal:  BMC Pediatr       Date:  2021-06-30       Impact factor: 2.125

  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.