Cutis aplasia as a feature of Kabuki syndrome

被引:2
作者
Canham, Natalie L. E. [1 ]
机构
[1] Great Ormond St Hosp Children, Clin Genet Unit, London WC1N 3JH, England
关键词
cutis aplasia; Kabuki syndrome; scalp defect;
D O I
10.1097/01.mcd.0000204992.92484.5f
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
This case report describes a child with the features of Kabuki syndrome, but with the additional feature of scalp cutis aplasia, which has not been previously described in this syndrome.
引用
收藏
页码:179 / 180
页数:2
相关论文
共 50 条
  • [41] Congenital heart defects in Kabuki syndrome
    Yuan, Shi-Min
    CARDIOLOGY JOURNAL, 2013, 20 (02) : 121 - 124
  • [42] Cochlear Implantation in a Patient with Kabuki Syndrome
    Vesseur, Annemarie
    Cillessen, Eva
    Mylanus, Emmanuel
    JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY, 2016, 12 (01) : 129 - 131
  • [43] Craniosynostosis in Kabuki syndrome Case report
    Martinez-Lage, Juan F.
    Felipe-Murcia, Matias
    Guillen Navarro, Encarna
    Almagro, Maria-Jose
    Lopez Lopez-Guerrero, Antonio
    Perez-Espejo, Miguel A.
    JOURNAL OF NEUROSURGERY-PEDIATRICS, 2010, 6 (02) : 198 - 201
  • [44] Growth charts in Kabuki syndrome 1
    Ruault, Valentin
    Corsini, Carole
    Duflos, Claire
    Akouete, Sandrine
    Georgescu, Vera
    Abaji, Mario
    Alembick, Yves
    Alix, Eudeline
    Amiel, Jeanne
    Amouroux, Cyril
    Barat-Houari, Mouna
    Baumann, Clarisse
    Bonnard, Adeline
    Boursier, Guilaine
    Boute, Odile
    Burglen, Lydie
    Busa, Tiffany
    Cordier, Marie-Pierre
    Cormier-Daire, Valerie
    Delrue, Marie-Ange
    Doray, Berenice
    Faivre, Laurence
    Fradin, Melanie
    Gilbert-Dussardier, Brigitte
    Giuliano, Fabienne
    Goldenberg, Alice
    Gorokhova, Svetlana
    Heron, Delphine
    Isidor, Bertrand
    Jacquemont, Marie-Line
    Jacquette, Aurelia
    Jeandel, Claire
    Lacombe, Didier
    Le Merrer, Martine
    Sang, Kim Hanh Le Quan
    Lyonnet, Stanislas
    Manouvrier, Sylvie
    Michot, Caroline
    Moncla, Anne
    Moutton, Sebastien
    Odent, Sylvie
    Pelet, Anna
    Philip, Nicole
    Pinson, Lucile
    Reversat, Julie
    Roume, Joelle
    Sanchez, Elodie
    Sanlaville, Damien
    Sarda, Pierre
    Schaefer, Elise
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (03) : 446 - 453
  • [45] Dental Evaluation of Kabuki Syndrome Patients
    Teixeira, Camila Santos
    Leite Silva, Claudia Renata
    Honjo, Rachel Sayuri
    Bertola, Debora Romeo
    Jose Albano, Lilian Maria
    Kim, Chong Ae
    CLEFT PALATE-CRANIOFACIAL JOURNAL, 2009, 46 (06) : 668 - 673
  • [46] Immunodeficiency of Kabuki Syndrome: A Case Series
    Su, Stefani
    McInerney, Alissa
    Jongco, Artemio
    JOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (SUPPL 1) : S105 - S106
  • [47] Expressive language in children with Kabuki syndrome
    Defloor, T
    van Borsel, J
    Schrander-Stumpel, CTRM
    Curfs, LMG
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 132A (03) : 256 - 259
  • [48] Hypothalamic pituitary complications in Kabuki syndrome
    Naoko Ito
    Kenji Ihara
    Yasushi Tsutsumi
    Noriko Miyake
    Naomichi Matsumoto
    Toshiro Hara
    Pituitary, 2013, 16 : 133 - 138
  • [49] Seizures and EEG pattern in Kabuki syndrome
    Lodi, Monica
    Chifari, Rosanna
    Parazzini, Cecilia
    Viri, Maurizio
    Beccaria, Francesca
    Lorenzetti, Maria Elena
    Meloni, Marta
    Capovilla, Giuseppe
    Romeo, Antonino
    BRAIN & DEVELOPMENT, 2010, 32 (10) : 829 - 834
  • [50] Hypoplastic Left Heart Syndrome in Patients with Kabuki Syndrome
    Grace C. Kung
    Philip M. Chang
    Mark S. Sklansky
    Linda M. Randolph
    Pediatric Cardiology, 2010, 31 : 138 - 141