Greig cephalopolysyndactyly syndrome with oral manifestations: A rare case report

被引：0

作者：

Unni, Jiji V. ^{[1
]}

Daryani, Deepak ^{[1
]}

Sreejan, K. C. ^{[1
]}

Uthkal, P. M. ^{[1
]}

机构：

[1] Malabar Dent Coll & Res Ctr, Dept Oral Med & Radiol, Edappal, Kerala, India

来源：

INTERNATIONAL JOURNAL OF APPLIED AND BASIC MEDICAL RESEARCH | 2020年 / 10卷 / 02期

关键词：

Greig cephalopolysyndactyly syndrome; hypertelorism; macrocephaly; polydactyly;

D O I：

10.4103/ijabmr.IJABMR_391_18

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Greig cephalopolysyndactyly syndrome (GCPS) is one of the autosomal dominant-inherited syndromes, caused by haploinsufficiency of the GLI3 gene. It is a rare, multiple congenital syndrome with an estimated rate of 0.009%. With the classic clinical triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly, presumptive diagnosis of GCPS is made. The purpose of this article is to report a case of GCPS with emphasis on craniofacial and oral features.

引用

页码：140 / 142

页数：3

共 50 条

[31] Oral Manifestations of Multiple Endocrine Neoplasia 2B Syndrome: A Rare Case Report
Banerjee, Sohini
Kar, Debkamal
[J]. CONTEMPORARY CLINICAL DENTISTRY, 2024, 15 (01) : 54 - 57
[32] Oral manifestations and rehabilitation in Fraser syndrome: A case report
Gallottini, Marina
Llanos, Alexandre Hugo
Romito, Giuseppe Alexandre
Romano, Marcelo Munhoes
de Oliveira, Felipe Beraldo
Medeiros de Rezende, Nathalie Pepe
[J]. SPECIAL CARE IN DENTISTRY, 2018, 38 (04) : 249 - 254
[33] Alagille syndrome: Oral manifestations-A case report
Anacleto, Murilo Augusto
Melo, Christiane Fernandes Ribeiro
Oliveira, Rafaela Peixoto
da Silva, Luis Candido Pinto
Taitson, Paulo Franco
[J]. SPECIAL CARE IN DENTISTRY, 2021, 41 (06) : 741 - 749
[34] Fahr's Disease with Oral Manifestations: Report of a Rare Case
Aditya, Amita
Lele, Shailesh
Aditya, Priyam
[J]. MEDICAL PRINCIPLES AND PRACTICE, 2012, 21 (04) : 395 - 397
[35] Molecular analysis of Greig cephalopolysyndactyly syndrome shows a high frequency of deletions.
Olivos-Glander, IM
Blancato, J
Meck, J
Biesecker, LG
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A483 - A483
[36] Olmsted syndrome - A rare syndrome with oral manifestations
Batra, P
Shah, N
[J]. ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY, 2004, 97 (05): : 599 - 602
[37] Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality
Williams, PG
Hersh, JH
Yen, FF
Barch, MJ
Kleinert, HE
Kunz, J
Kalff-Suske, M
[J]. CLINICAL GENETICS, 1997, 52 (06) : 436 - 441
[38] Senior-Loken Syndrome with Rare Manifestations: A Case Report
Aggarwal, Harikrishan K.
Jain, Deepak
Yadav, Sachin
Kaverappa, Vipin
Gupta, Abhishek
[J]. EURASIAN JOURNAL OF MEDICINE, 2013, 45 (02): : 128 - 131
[39] DELETIONS OF GENES AND ANONYMOUS DNA PROBES IN 2 BOYS WITH GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
WAGNER, K
KROISEL, PM
ROSENKRANZ, W
[J]. CYTOGENETICS AND CELL GENETICS, 1991, 58 (3-4): : 1926 - 1927
[40] GREIG CEPHALOPOLYSYNDACTYLY SYNDROME - A POSSIBLE MOUSE HOMOLOG (XT-EXTRA TOES)
WINTER, RM
HUSON, SM
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 31 (04): : 793 - 798

← 1 2 3 4 5 →