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201390

Genetic Study of Multiple Congenital Contractures (Arthrogryposis Multiplex Congenita)

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Last updated: 03 Jan 2025

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Abstract

Arthrogryposis is a term used to describe conditions with multiple congenital contractures involving more than one part of the body. This study was carried out to study different conditions with arthrogryposis and their mode of inheritance that would allow proper diagnosis, management and appropriate genetic counseling. The present study included thirty patients with arthrogryposis attending the Genetic clinic, Medical Research Institute, Alexandria University. Their ages ranged from 2 days to 8.5 years. The male to female ratio was 0.77. The frequency of parental consanguinity was 50%. Abnormal pregnancy history was found in 22 cases [73.3%]. Both upper and lower limb affection was noticed in 28 patients [93.3%], while isolated upper limb affection occurred in one case and isolated lower limb affection in one case. Finger joints were the most commonly affected [90%]. The studied cases were classified into three groups; 1 :patients with 1ry limb involvement, included 6 [20%] cases of amyoplasia, II :patients with limb involvement plus other system anomalies [ included 14 [46.7%]; distal arthrogryposis in 4 [13.3%], multiple pterygium syndrome in 4 [13.3%], congenital contractural arachnodactyly in 3 [10%], Freeman-Sheldon syndrome in 3 [10%] ] and IlI: patients with limb involvement plus CNS dysfunction and/or mental retardation, constituted 10 cases [33.3%]; chromosomal abnormalities in 4 [13.3%] (2 with 47,XX+18, one 46, XY,7q+ and one 46,XY,t[9;13][p11;q11]),Roberts syndrome [2; 6.7%], campomelic dysplasia [1; 3.33%], Walker-Warburg syndrome [1; 3.33%], Pena-Shokeir phenotype [1; 3.33%], adducted thumb syndrome [1; 3.33%]. We concluded that examination of all joints in the upper and lower limbs is the key to the diagnosis in the majority of cases of arthrogryposis. There is marked inter- and intrafamilial variability in many conditions with arthrogryposis. An accurate diagnosis is important in genetic counseling, prevention, management and prognosis.

DOI

10.21608/jhiph.2003.201390

Keywords

Multiple Congenital Contractures, Arthrogryposis Multiplex Congenita

Authors

First Name

Mervat

Last Name

El Belbesy

MiddleName

F.

Affiliation

Human Genetics Department, Medical Research Institute, Alexandria University, Egypt

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Orcid

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First Name

Suzan

Last Name

Ismail

MiddleName

R.

Affiliation

Human Genetics Department, Medical Research Institute, Alexandria University, Egypt

Email

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City

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Orcid

-

First Name

Samia

Last Name

Kotb

MiddleName

M.

Affiliation

Human Genetics Department, Medical Research Institute, Alexandria University, Egypt

Email

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City

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Orcid

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First Name

Hassan

Last Name

El-Hosseiny

MiddleName

A.

Affiliation

Department of Orthopedic Surgery, Faculty of Medicine, University of Alexandria, Egypt

Email

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City

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Orcid

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First Name

Amal

Last Name

Abd El Aziz

MiddleName

M.

Affiliation

Human Genetics Department, Medical Research Institute, Alexandria University, Egypt

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Orcid

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Volume

33

Article Issue

1

Related Issue

27973

Issue Date

2003-01-01

Receive Date

2021-10-26

Publish Date

2003-01-01

Page Start

195

Page End

210

Print ISSN

2357-0601

Online ISSN

2357-061X

Link

https://jhiphalexu.journals.ekb.eg/article_201390.html

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https://jhiphalexu.journals.ekb.eg/service?article_code=201390

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14

Type

Original Article

Type Code

511

Publication Type

Journal

Publication Title

Journal of High Institute of Public Health

Publication Link

https://jhiphalexu.journals.ekb.eg/

MainTitle

Genetic Study of Multiple Congenital Contractures (Arthrogryposis Multiplex Congenita)

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Article

Created At

22 Jan 2023