Literature DB >> 8298737

Multiple circumferential skin folds and other anomalies: a problem in syndrome delineation.

M M Cohen1, R J Gorlin, R Clark, S G Ewing, P R Camfield.   

Abstract

Three patients with multiple ring creases of the extremities are reported. Evidence to date points to aetiological heterogeneity. The skin folds may occur as an isolated abnormality or together with other patterns of malformation, making-up various syndromes that need to be further delineated. One type is associated with autosomal dominant inheritance. This striking abnormality usually resolves with time.

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Year:  1993        PMID: 8298737

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  3 in total

1.  New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.

Authors:  Lina Basel-Vanagaite; Eli Sprecher; Andrea Gat; Paul Merlob; Adi Albin-Kaplanski; Osnat Konen; Benjamin D Solomon; Maximilian Muenke; Karl-H Grzeschik; Lea Sirota
Journal:  Pediatr Dermatol       Date:  2011-10-13       Impact factor: 1.588

2.  Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Authors:  Mala Isrie; Martin Breuss; Guoling Tian; Andi Harley Hansen; Francesca Cristofoli; Jasmin Morandell; Zachari A Kupchinsky; Alejandro Sifrim; Celia Maria Rodriguez-Rodriguez; Elena Porta Dapena; Kurston Doonanco; Norma Leonard; Faten Tinsa; Stéphanie Moortgat; Hakan Ulucan; Erkan Koparir; Ender Karaca; Nicholas Katsanis; Valeria Marton; Joris Robert Vermeesch; Erica E Davis; Nicholas J Cowan; David Anthony Keays; Hilde Van Esch
Journal:  Am J Hum Genet       Date:  2015-12-03       Impact factor: 11.025

3.  A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2.

Authors:  Jincai Feng; Xiaoping Lan; Jun Shen; Xiaozhen Song; Xiaojun Tang; Wuhen Xu; Xiang Ren; Hong Zhang; Guangjun Yu; Shengnan Wu
Journal:  Mol Genet Genomic Med       Date:  2020-01-05       Impact factor: 2.183

  3 in total

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