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.

引用

页数：5

共 50 条

[1] Single median maxillary central incisor, hypophyseal tumor, and SHH mutation
Ribeiro, LA
Richieri-Costa, A
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 136A (04) : 346 - 347
[2] The primary maxillary central incisor in the Solitary Median Maxillary Central Incisor syndrome
Kjaer, I.
Balslev-Olesen, M.
EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY, 2012, 13 (01) : 73 - 75
[3] DiGeorge syndrome associated with solitary median maxillary central incisor
Yang, HC
Shyur, SD
Huang, LH
Chang, YC
Wen, DC
Liang, PH
Lin, MT
ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY, 2005, 23 (2-3): : 159 - 163
[4] SINGLE MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME AND ITS CLINICAL IMPORTANCE
Aydemir, H.
Aydemir, S.
Bezgin, T.
Ceylaner, S.
Senel, S.
GENETIC COUNSELING, 2014, 25 (04): : 453 - 455
[5] SHH mutation is associated with solitary median maxillary central incisor:: A study of 13 patients and review of the literature
Nanni, L
Ming, JE
Du, YZ
Hall, RK
Aldred, M
Bankier, A
Muenke, M
AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 102 (01): : 1 - 10
[6] Solitary median maxillary central incisor (SMMCI) syndrome
Roger K Hall
Orphanet Journal of Rare Diseases, 1
[7] Brain Malformation in Single Median Maxillary Central Incisor
Kjaer, I.
Wagner, Aa.
Thomsen, L. L.
Holm, K.
NEUROPEDIATRICS, 2009, 40 (06) : 280 - 283
[8] Solitary median maxillary central incisor (SMMCI) syndrome
Hall, Roger K.
ORPHANET JOURNAL OF RARE DISEASES, 2006, 1 (1)
[9] Eruption of the central incisor, the intermaxillary suture, and maxillary growth in patients with a single median maxillary central incisor
Becktor, KB
Sverrild, L
Pallisgaard, C
Burhoj, J
Kjær, I
ACTA ODONTOLOGICA SCANDINAVICA, 2001, 59 (06) : 361 - 366
[10] Short stature and single central incisor of the upper maxillar: Pathogenic variant in the SHH gene
Dominguez-Riscart, Jesus
Arellano-Ruiz, Paola
Garcia-Zarzuela, Ana
Modamio-Hoybjor, Silvia
Lechuga-Sancho, Alfonso M.
HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 451 - 452

← 1 2 3 4 5 →