scholarly journals ?Mowat-Wilson? syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

2002 ◽  
Vol 108 (3) ◽  
pp. 177-181 ◽  
Author(s):  
Christiane Zweier ◽  
Beate Albrecht ◽  
Beate Mitulla ◽  
Rolf Behrens ◽  
Maike Beese ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Zinc Finger ◽  
Congenital Anomalies ◽  
Hirschsprung Disease ◽  
Multiple Congenital Anomalies ◽  
Homeo Box

scholarly journals Cardiofaciocutaneus syndrome: literature review and case report

2019 ◽  
Vol 8 (4) ◽  
pp. 49-53
Author(s):  
V. V. Umnov ◽  
N. V. Nikitina ◽  
A. M. Khodorovskaya ◽  
O. V. Barlova
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Multiple Congenital Anomalies ◽  
Cardiofaciocutaneous Syndrome

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement—the CFC syndrome

1986 ◽  
Vol 25 (3) ◽  
pp. 413-427 ◽  
Author(s):  
James F. Reynolds ◽  
Giovanni Neri ◽  
Jurgen P. Herrmann ◽  
Bruce Blumberg ◽  
James G. Coldwell ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Multiple Congenital Anomalies ◽  
Cutaneous Involvement ◽  
Cfc Syndrome

Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12 → q13.3) inherited from the mother

2008 ◽  
Vol 50 (2) ◽  
pp. 63-73 ◽  
Author(s):  
C. Apacik ◽  
M. Cohen ◽  
M. Jakobeit ◽  
B. Schmucker ◽  
S. Schuffenhauer ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Multiple Congenital Anomalies

Multiple Congenital Anomalies/Mental Retardation Syndrome With Multiple Circumferential Skin Creases: A New Syndrome?

2009 ◽  
Vol 24 (2) ◽  
pp. 224-227 ◽  
Author(s):  
Faten Tinsa ◽  
Khaoula Aissa ◽  
Mounira Meddeb ◽  
Dorra Bousnina ◽  
Khadija Boussetta ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Multiple Congenital Anomalies
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