Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway

Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway:



Publication date: Available online 13 April 2020

Source: International Journal of Pediatric Otorhinolaryngology

Author(s): Tomasz Zatoński, Pazdro-Zastawny Katarzyna, Morawska-Kochman Monika, Biela Mateusz, Kołtowska Anna, Rydzanicz Małgorzata, Rozensztrauch Anna, Joanna Kosińska, Dorobisz Karolina, Płoski Rafał, Robert Śmigiel



Case Report

Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway

Author links open overlay panelTomaszZatońskiaPazdro-ZastawnyKatarzynaaMorawska-KochmanMonikaaBielaMateuszbKołtowskaAnnacRydzaniczMałgorzatadRozensztrauchAnnabJoannaKosińskadDorobiszKarolinaaPłoskiRafałd1RobertŚmigielb1

a

Department and Clinic of Otolaryngology, Head and Neck Surgery, Medical University Hospital Wroclaw, Borowska 213, 50-556, Wroclaw, Poland

b

Department of Pediatrics, Division Propaedeutic of Pediatrics and Rare Disorders, Medical University, Wroclaw, Poland

c

Department of Radiology, Medical University Hospital Wroclaw, Borowska 213, 50-556, Wroclaw, Poland

d

Department of Genetics, Warsaw Medical University, Warsaw, Poland

Received 1 April 2020, Accepted 3 April 2020, Available online 13 April 2020.



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https://doi.org/10.1016/j.ijporl.2020.110038Get rights and content

Abstract

Solitary median maxillary central incisor syndrome (SMMCI) is a rare congenital oronasal-dental midline anomaly. The aim of this paper is a presentation of a patient with SMMCI without other visible dentofacial anomalies, with a potentially new molecular etiology consisting of a gene-gene reaction and conservative therapeutic approach to nasal obstruction. Potentially pathogenic variants in the SMO gene (p.Gly422Glu) and in P2RY13 gene (p.Trp205*) inherited from the probant's father, and in the PLD2 gene (p.Gln319fs), inherited from the mother were found. A multidisciplinary approach is necessary for the management of patients with SMMCI, including a genetic consultation with genetic tests.



Keywords

Solitary median maxillary central incisor syndromenasal obstructiongenetic testsSMOSHH

1

equal contribution



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