241245

Craniofacial Anthropometry in Escobar Syndrome in a Sample of Egyptians

Article

Last updated: 05 Jan 2025

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Abstract

Multiple  pterygium  syndromes  (MPSs)  are phenotypically  and genetically  heterogeneous  syndromes  that  can  be  broadly  divided  into lethal form, and nonlethal form which is Escobar syndrome. It is caused by  mutations  in  the  CHRNG  gene  provides  instructions  for  part  of  the acetylcholine receptor (AChR) protein found in skeletal muscle cells and is critical for signaling between nerve and muscle cells which is necessary for  movement.  Clinical,  genetical,  facial  and  oro-dental  manifestations were preciously observed and recorded for Escobar patients. Craniofacial anthropometric data was summarized using mean and standard deviation for  quantitative  variables  and  comparisons  between  patient  and  normal groups  were  done  using  unpaired  t  test.  P-values  less  than  0.05  were considered as statistically significant.

DOI

10.21608/mafs.2022.241245

Keywords

craniofacial, Anthropometry, Escobar syndrome, dysmorphic syndrome, Consanguinity

Authors

First Name

I.M.

Last Name

Noureldin

MiddleName

-

Affiliation

National Research Centre

Email

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City

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Orcid

-

First Name

N.A.

Last Name

Fakhry

MiddleName

-

Affiliation

Faculty of African Postgraduate Studies

Email

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City

-

Orcid

-

First Name

M.S.

Last Name

Aglan

MiddleName

-

Affiliation

National Research Centre

Email

-

City

-

Orcid

-

First Name

T.M.

Last Name

Abdelwahab

MiddleName

-

Affiliation

National Research Centre,

Email

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City

-

Orcid

-

First Name

E.H.

Last Name

Aboul- Ezz

MiddleName

-

Affiliation

National Research Centre,

Email

-

City

-

Orcid

-

First Name

S.

Last Name

El-Hadidy

MiddleName

-

Affiliation

National Research Centre

Email

-

City

-

Orcid

-

First Name

S.A.

Last Name

Temtamy

MiddleName

-

Affiliation

National Research Centre

Email

-

City

-

Orcid

-

Volume

44

Article Issue

1

Related Issue

33190

Issue Date

2022-01-01

Receive Date

2022-06-02

Publish Date

2022-01-01

Page Start

293

Page End

304

Print ISSN

1110-6018

Online ISSN

2812-6432

Link

https://mafs.journals.ekb.eg/article_241245.html

Detail API

https://mafs.journals.ekb.eg/service?article_code=241245

Order

241,245

Type

Research Article

Type Code

2,346

Publication Type

Journal

Publication Title

مجلة الدراسات الأفريقية

Publication Link

https://mafs.journals.ekb.eg/

MainTitle

Craniofacial Anthropometry in Escobar Syndrome in a Sample of Egyptians

Details

Type

Article

Created At

23 Jan 2023