Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies

1994 ◽  
Vol 51 (4) ◽  
pp. 591-597 ◽  
Author(s):  
Ben C. J. Hamel ◽  
Edwin C. M. Mariman ◽  
Sylvia E. C. van Beersum ◽  
Anneke M. J. Schoonbrood-Lenssen ◽  
Hans-Hilger Ropers
Keyword(s):  
Mental Retardation ◽  
Cleft Palate ◽  
Short Stature ◽  
Congenital Heart Defect ◽  
Congenital Anomalies ◽  
Congenital Heart ◽  
Multiple Congenital Anomalies ◽  
Facial Anomalies ◽  
Molecular Studies ◽  
Clinical Description

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.

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