Concepedia

19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype

Kikue Terada Abe, Isabela M. P. O. Rizzo, Ana Luiza Coelho, Nilo Sakai, Daniel R. Carvalho, Carlos E. Speck‐Martins

Clinical Case Reports · 2018 · 14 citations · 21 references

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Abstract

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.

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