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

被引：3
|
作者：
Zatonski, Tomasz [1 ]
Pazdro-Zastawny, Katarzyna [1 ]
Morawska-Kochman, Monika [1 ]
Biela, Mateusz [2 ]
Koltowska, Anna [3 ]
Rydzanicz, Malgorzata [4 ]
Rozensztrauch, Anna [2 ]
Kosinska, Joanna [4 ]
Dorobisz, Karolina [1 ]
Ploski, Rafal [4 ]
Smigiel, Robert [2 ]
机构：
[1] Med Univ Hosp Wroclaw, Dept & Clin Otolaryngol Head & Neck Surg, Borowska 213, PL-50556 Wroclaw, Poland
[2] Med Univ, Dept Pediat, Div Propaedeut Pediat & Rare Disorders, Wroclaw, Poland
[3] Med Univ Hosp Wroclaw, Dept Radiol, Borowska 213, PL-50556 Wroclaw, Poland
[4] Warsaw Med Univ, Dept Genet, Warsaw, Poland
来源：
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2020年 / 134卷
关键词：
Solitary median maxillary central incisor syndrome; Nasal obstruction; Genetic tests; SMO; SHH; PYRIFORM APERTURE STENOSIS; MIDNASAL STENOSIS; MANAGEMENT;
D O I：
10.1016/j.ijporl.2020.110038
中图分类号：
R76 [耳鼻咽喉科学];
学科分类号：
100213 ;
摘要：
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.
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页数：5
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