Open Access19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
Author(s) -
Abe Kikue Terada,
Rizzo Isabela M. P. O.,
Coelho Ana L. V.,
Sakai Nilo,
Carvalho Daniel R.,
SpeckMartins Carlos E.
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1600
Subject(s) - ectrodactyly , medicine , ectodermal dysplasia , phenotype , clinical phenotype , dermatology , dysplasia , genetics , pathology , gene , biology
Key Clinical Message We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia‐clefting ( EEC ) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we suggest testing patients with EEC for 19q13.11 microdeletion and include WTIP and UBA 2 to a minimal overlapping region.