A Novel Homozygous Variant in GJA1 Causing a Hallermann-Streiff/Oculodentodigital Dysplasia Overlapping Phenotype: A Clinical Report

A Novel Homozygous Variant in GJA1 Causing a Hallermann-Streiff/Oculodentodigital Dysplasia Overlapping Phenotype: A Clinical Report

This paper reports the case of a Moroccan girl with a phenotype within the clinical spectrum of both Hallermann-Streiff (HSS, OMIM 234100) and Oculodentodigital Dysplasia (ODDD, OMIM 164200) syndromes. The patient presented with repeated dental abscesses and severe early childhood caries. She had no...

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Bibliographic Details
Main Authors: Alexandra Jimenez-Armijo, Khadja Oumensour, Bouchra Bousfiha, Tristan Rey, Virginie Laugel-Haushalter, Agnès Bloch-Zupan, Samira El Arabi
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Dental Medicine
Subjects:
case report
rare disease
oculodentodigital dysplasia
Hallermann Streiff
dental anomalies
connexin 43
Online Access:https://www.frontiersin.org/articles/10.3389/fdmed.2021.675130/full

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https://www.frontiersin.org/articles/10.3389/fdmed.2021.675130/full

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