Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor Retardation

Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor Retardation

We report the case of a 19-years-old patient who presented with a perplexing variety of symptoms which included remarkable facial features, intellectual disability, granulomatous upper lip swelling (previously diagnosed as Melkersson–Rosenthal syndrome), Crohn’s-like disease, non-productive cough, a...

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Bibliographic Details
Main Authors: Daniel Soukup, Alma Kuechler, Joachim Roesler, Leopold Pichlmaier, Maximillian Eckerland, Margarete Olivier, Florian Stehling
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-09-01
Series:Frontiers in Genetics
Subjects:
chronic granulomatous disease
lip
swelling
Williams–Beuren syndrome
microdeletion
compound heterozygosity
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00355/full

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