Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families

2014 ◽  
Vol 87 (5) ◽  
pp. 492-495 ◽  
Author(s):  
A.A. Vorster ◽  
P. Beighton ◽  
R.S. Ramesar
Keyword(s):  
South African ◽  
Mutation Analysis ◽  
Joint Laxity ◽  
African Families ◽  
Spondyloepimetaphyseal Dysplasia

Diastrophic Dysplasia and Related Conditions, and Dysplasias with Joint Dislocations

2018 ◽  
pp. 245-306
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Joint Laxity ◽  
Diastrophic Dysplasia ◽  
Desbuquois Dysplasia ◽  
Recessive Type ◽  
Joint Dislocations ◽  
Bone Dysplasias ◽  
Epiphyseal Dysplasia ◽  
Spondyloepimetaphyseal Dysplasia

This chapter further discusses bone dysplasias and includes discussion on achondrogenesis (type IB), atelosteogenesis type 2, diastrophic dysplasia, multiple epiphyseal dysplasia (recessive type [rMED]), Desbuquois dysplasia, chondrodysplasia with joint dislocations (IMPAD1/gPAPP type), Catel-Manzke syndrome, chondrodysplasia with congenital joint dislocations (CHST3-type), temtamy preaxial brachydactyly syndrome (TPBS), B4GALT7 deficiency, B3GAT3 deficiency, XYLT1 deficiency, spondyloepimetaphyseal dysplasia with joint laxity Beighton type, spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type), pseudodiastrophic dysplasia, and Steel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

scholarly journals WOMEN AS DIVINERS AND AS CHRISTIAN CONVERTS IN RURAL SOUTH AFRICA, c. 1880–1963

2016 ◽  
Vol 57 (3) ◽  
pp. 367-389
Author(s):  
SEAN REDDING
Keyword(s):  
South Africa ◽  
South African ◽  
Causes Of Death ◽  
Spiritual Beliefs ◽  
Rural South ◽  
Time Period ◽  
Cultural Mediators ◽  
Christian Families ◽  
African Families ◽  
Rural South Africa

AbstractThis article argues that rural South African women's importance as spiritual actors in the period from the late nineteenth through the mid-twentieth centuries stemmed from their ability to embrace hybrid spiritual identities that corresponded closely to the lived reality of African rural life, and that by embracing those identities, women expanded their roles as social healers. Professing a belief in Christianity did not prevent individuals from practicing as diviners, nor did it prevent Christians from consulting diviners to determine the causes of death or misfortune. Similarly, young women who converted to Christianity often maintained close ties to non-Christian families and bridged spiritual lives on the mission stations with life in their families. Over this time period, women became cultural mediators who borrowed, adopted, and combined spiritual beliefs to provide more complete answers to problems faced by rural African families in South Africa.

Family policy for all South African families

2016 ◽  
Vol 60 (5) ◽  
pp. 1189-1200 ◽  
Author(s):  
Marlize Rabe
Keyword(s):  
South Africa ◽  
Middle Class ◽  
South African ◽  
Family Life ◽  
Family Policy ◽  
White Paper ◽  
Family Diversity ◽  
Vulnerable Families ◽  
African Families

The ‘White Paper of Families in South Africa’ is critically analysed in this article. It is shown that although family diversity is acknowledged in the aforementioned document, certain implications of the document undermine such professed diversity, not all caretakers of children are acknowledged and supported, and financially vulnerable families are not strengthened. Instead, narrow ideals of family life are at times promoted, suggesting middle-class heterosexual values. It is argued here that the realities of family life should be accepted as such and family in different forms should be supported consistently, not subtly pushed to conform to restricted interpretations of what families should be like.

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype

2013 ◽  
Vol 32 (7-8) ◽  
pp. 387-392 ◽  
Author(s):  
Melanie Grosch ◽  
Barbara Grüner ◽  
Stephanie Spranger ◽  
Adrian M. Stütz ◽  
Tobias Rausch ◽  
...  
Keyword(s):  
Joint Laxity ◽  
Spondyloepimetaphyseal Dysplasia
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