scholarly journals Greig cephalopolysyndactyly syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Greig Cephalopolysyndactyly Syndrome

Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3

2020 ◽  
Author(s):  
Hammal Khan ◽  
Sohail Ahmed ◽  
Sadia Nawaz ◽  
Wasim Ahmad ◽  
Muhammad Arshad Rafiq ◽  
...  
Keyword(s):  
Skeletal Development ◽  
Phenotypic Variability ◽  
Transcriptional Regulator ◽  
Molecular Study ◽  
Inherited Disorders ◽  
Pakistani Population ◽  
Greig Cephalopolysyndactyly Syndrome ◽  
Novel Variants ◽  
Limb Malformations ◽  
Pleiotropic Gene

Abstract Background GLI3 is a transcriptional regulator of several genes involved in mammalian skeletal development. Mutations in the pleiotropic gene GLI3 may result in different inherited disorders including Greig cephalopolysyndactyly syndrome (GCPS). GCPS is characterized by mild to severe craniofacial and limb malformations. Methods and Results Here, we report clinical and molecular study of 3 families with GCPS originated in different regions of Pakistan. Sanger sequencing revealed two novel variants including a frameshift [c. 3790_3791InsC, p.(Gly1236Argfs*11)] and a missense [c.1692A>G, p.(His536Arg)], and one previously reported variant [c.1965_1966delAT, p.(His627Glufs*48)] located in 2 different domains of the GLI3. Conclusion This study not only expanded spectrum of the mutations in the GLI3 but also highlighted phenotypic variability in the GCPS patients. This will facilitate diagnosis and genetic counseling of families with same and related disorders in the Pakistani population.

The Greig cephalopolysyndactyly syndrome: Report of a family and review of the literature

1985 ◽  
Vol 22 (1) ◽  
pp. 59-68 ◽  
Author(s):  
Thomaz Rafael Gollop ◽  
Luiz Roberto Fontes ◽  
John M. Opitz ◽  
James F. Reynolds
Keyword(s):  
Review Of The Literature ◽  
Greig Cephalopolysyndactyly Syndrome ◽  
Syndrome Report

Crossed polydactyly and Greig cephalopolysyndactyly syndrome

2013 ◽  
Vol 50 (10) ◽  
pp. 967-968 ◽  
Author(s):  
Ramya Uppuluri ◽  
K. Gowrishankar ◽  
L. Janakiraman
Keyword(s):  
Greig Cephalopolysyndactyly Syndrome

scholarly journals Differential diagnosis of syndromic craniosynostosis: a case series

2021 ◽  
Author(s):  
Tamara Casteleyn ◽  
Denise Horn ◽  
Wolfgang Henrich ◽  
Stefan Verlohren
Keyword(s):  
Mode Of Delivery ◽  
Case Series ◽  
Fetal Mri ◽  
Apert Syndrome ◽  
Syndromic Craniosynostosis ◽  
Greig Cephalopolysyndactyly Syndrome ◽  
Mri Scans ◽  
Perinatal Center ◽  
Associated Malformations ◽  
Suspected Diagnosis

Abstract Purpose Syndromic craniosynostosis is a rare genetic disease caused by premature fusion of one or multiple cranial sutures combined with malformations of other organs. The aim of this publication is to investigate sonographic signs of different syndromic craniosynostoses and associated malformations to facilitate a precise and early diagnosis. Methods We identified in the period of 2000–2019 thirteen cases with a prenatal suspected diagnosis of syndromic craniosynostosis at our department. We analyzed the ultrasound findings, MRI scans, genetic results as well as the mode of delivery, and postnatal procedures. Results Eight children were diagnosed with Apert Syndrome, two with Saethre Chotzen syndrome, one with Crouzon syndrome, and one with Greig cephalopolysyndactyly syndrome. One child had a mutation p.(Pro253Leu) in the FGFR2 gene. We identified characteristic changes of the head shape as well as typical associated malformations. Conclusion Second trimester diagnosis of syndromic craniosynostosis is feasible based on the identified sonographic signs. In case of a suspected diagnosis a genetic, neonatal as well as surgical counseling is recommended. We also recommend to offer a fetal MRI. The delivery should be planned in a perinatal center.

scholarly journals Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Martina Siracusano ◽  
Assia Riccioni ◽  
Antonia Baratta ◽  
Maurizia Baldi ◽  
Paolo Curatolo ◽  
...  
Keyword(s):  
Case Report ◽  
Greig Cephalopolysyndactyly Syndrome ◽  
Family Case ◽  
Autistic Symptoms

Genetic arhinencephalic mouse (Pdn/Pdn) as a model of Kallman's syndrome or Greig cephalopolysyndactyly syndrome

1994 ◽  
Vol 1 ◽  
pp. 251
Author(s):  
I. Naruse ◽  
H. Keino ◽  
M. Taniguchi ◽  
Y. Yamada ◽  
Y. Fukui ◽  
...  
Keyword(s):  
Greig Cephalopolysyndactyly Syndrome

scholarly journals Novel GLI3 mutation in a Greek–Cypriot patient with Greig cephalopolysyndactyly syndrome

2015 ◽  
Vol 24 (3) ◽  
pp. 102-105 ◽  
Author(s):  
George A. Tanteles ◽  
Sofia Michaelidou ◽  
Eleni Loukianou ◽  
Violetta Christophidou-Anastasiadou ◽  
Kleopas A. Kleopa
Keyword(s):  
Greig Cephalopolysyndactyly Syndrome ◽  
Greek Cypriot
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