scholarly journals Radial Aplasia-Thrombocytopenia Syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Radial Aplasia

scholarly journals P02.73: Sirenomelia with bilateral radial aplasia-diagnosis in the first trimester

2006 ◽  
Vol 28 (4) ◽  
pp. 540-540
Author(s):  
F. Lenz ◽  
N. Sarioglu ◽  
K. D. Kalache
Keyword(s):  
First Trimester ◽  
Radial Aplasia

scholarly journals Radial, renal and craniofacial anomalies: Baller-Gerold syndrome

2008 ◽  
Vol 41 (01) ◽  
pp. 76-78
Author(s):  
Jyotsna Murthy ◽  
Ramesh Babu ◽  
padasani Venkat Ramanan
Keyword(s):  
Phenotypic Variability ◽  
Differential Diagnoses ◽  
Craniofacial Anomalies ◽  
Distinct Entity ◽  
Rare Syndrome ◽  
Radial Aplasia

ABSTRACTthe baller-gerold syndrome is a rare syndrome with very few cases published in literature. craniosynostosis and radial aplasia are striking features, easy to diagnose. however, there are many differential diagnoses. often, the question raised is whether the baller-gerald syndrome is a distinct entity. we report a patient with findings of craniosynostosis and radial aplasia consistent with the diagnosis of the baller-gerold syndrome. genotypic heterogeneity could possibly underlie the phenotypic variability exhibited by these cases.

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome

1999 ◽  
Vol 82 (2) ◽  
pp. 170-176 ◽  
Author(s):  
Karen W. Gripp ◽  
Catherine A. Stolle ◽  
Livija Celle ◽  
Donna M. McDonald-McGinn ◽  
Linton A. Whitaker ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Twist Gene ◽  
Radial Aplasia

Radial aplasia, poikiloderma and auto-immune enterocolitis - new syndrome or severe form of Rothmund-Thomson syndrome?

2000 ◽  
Vol 9 (2) ◽  
pp. 79-85 ◽  
Author(s):  
Y. Hilhorst-Hofstee ◽  
N. Shah ◽  
D. Atherton ◽  
J. I. Harper ◽  
P. Milla ◽  
...  
Keyword(s):  
Severe Form ◽  
Rothmund Thomson Syndrome ◽  
Radial Aplasia

The Management of Congenital Radial Aplasia

1981 ◽  
Vol 6 (6) ◽  
pp. 430-436
Author(s):  
Alipio Pernet
Keyword(s):  
Radial Aplasia

Craniosynostosis-radial aplasia syndrome

1974 ◽  
Vol 84 (5) ◽  
pp. 723-724 ◽  
Author(s):  
Lawrence J. Greitzer ◽  
Kenneth L. Jones ◽  
Bill S. Schnall ◽  
David W. Smith
Keyword(s):  
Radial Aplasia

Muscle abnormalities associated with radial aplasia

Teratology ◽  
1983 ◽  
Vol 27 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Trent D. Stephens
Keyword(s):  
Radial Aplasia
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