Literature DB >> 21262397

Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".

Leen Wouters1, Celia Maria Rodriguez Rodriguez, Elena Porta Dapena, Vincent Vander Poorten, Koen Devriendt, Hilde Van Esch.   

Abstract

Congenital symmetrical circumferential skin creases are a rare feature, often described as the "Michelin Tire Baby" syndrome and in general having a good prognosis. In some patients however, the circumferential skin creases are associated with other congenital malformations. We describe 2 unrelated patients presenting with multiple circumferential skin creases, growth retardation, developmental delay, a typical facial appearance and cleft palate. In literature, 6 patients with an almost identical clinical phenotype have been described. This well recognizable syndrome should be distinguished from the "Michelin Tire Baby" syndrome and we therefore propose the term "circumferential skin creases Kunze type".
Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Entities:  

Mesh:

Year:  2011        PMID: 21262397     DOI: 10.1016/j.ejmg.2011.01.003

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  7 in total

1.  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

Review 2.  Zebrafish models of orofacial clefts.

Authors:  Kaylia M Duncan; Kusumika Mukherjee; Robert A Cornell; Eric C Liao
Journal:  Dev Dyn       Date:  2017-09-25       Impact factor: 3.780

Review 3.  Hereditary Hearing Impairment with Cutaneous Abnormalities.

Authors:  Tung-Lin Lee; Pei-Hsuan Lin; Pei-Lung Chen; Jin-Bon Hong; Chen-Chi Wu
Journal:  Genes (Basel)       Date:  2020-12-30       Impact factor: 4.096

4.  MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome.

Authors:  Cedric Thues; Jorge S Valadas; Liesbeth Deaulmerie; Ann Geens; Amit K Chouhan; Ramon Duran-Romaña; Joost Schymkowitz; Frederic Rousseau; Michaela Bartusel; Rizwan Rehimi; Alvaro Rada-Iglesias; Patrik Verstreken; Hilde Van Esch
Journal:  Sci Rep       Date:  2021-03-02       Impact factor: 4.379

5.  Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type.

Authors:  Gao Chun Fang; Ding Kaiwei; Zeng Lingkong; Tao Xuwei
Journal:  Mol Genet Genomic Med       Date:  2022-06-23       Impact factor: 2.473

Review 6.  New described dermatological disorders.

Authors:  Müzeyyen Gönül; Bengu Cevirgen Cemil; Havva Ozge Keseroglu; Havva Kaya Akis
Journal:  Biomed Res Int       Date:  2014-08-28       Impact factor: 3.411

7.  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

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.