Partial trisomy of short arm of chromosome 8 (46,XY, inv dup (8) (p21→pter) in a Bedouin child with multiple congenital anomalies and mental retardation

1994 ◽  
Vol 61 (3) ◽  
pp. 301-306
Author(s):  
A. A. Redha ◽  
D. S. Krishna Murthy ◽  
H. Kandil ◽  
T. I. Farag ◽  
R. Usha ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Partial Trisomy ◽  
Chromosome 8 ◽  
Multiple Congenital Anomalies

Unusual complex of ventral midline anomalies: A multiple congenital anomalies/mental retardation syndrome

1996 ◽  
Vol 66 (4) ◽  
pp. 453-456 ◽  
Author(s):  
Axel Bohring ◽  
Josef Sonntag ◽  
Heinz Schröder ◽  
Hans-Rudolf Wiedemann
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Multiple Congenital Anomalies ◽  
Ventral Midline

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.

Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause

1982 ◽  
Vol 12 (2) ◽  
pp. 155-173 ◽  
Author(s):  
Roberto Coco ◽  
Victor B. Penchaszadeh ◽  
John M. Opitz
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Multiple Congenital Anomalies

Aural atresia associated with multiple congenital anomalies and mental retardation: A new syndrome

1987 ◽  
Vol 110 (5) ◽  
pp. 747-750 ◽  
Author(s):  
Linda F. Cooper ◽  
Ethylin Wang Jabs
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Multiple Congenital Anomalies ◽  
Aural Atresia

scholarly journals A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
C. S. Paththinige ◽  
N. D. Sirisena ◽  
U. G. I. U. Kariyawasam ◽  
R. C. Ediriweera ◽  
P. Kruszka ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
Partial Trisomy ◽  
Review Of Literature ◽  
Multiple Congenital Anomalies ◽  
Balanced Translocation

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
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