The N syndrome, a “new” multiple congenital anomaly-mental retardation syndrome:Studies of malformation syndromes in man XXVII

2008 ◽  
Vol 6 (4) ◽  
pp. 237-246 ◽  
Author(s):  
Russell O. Hess ◽  
Elisabeth G. Kaveggia ◽  
John M. Opitz
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Multiple Congenital Anomaly ◽  
Malformation Syndromes

Homozygous SALL1 mutation causes a novel multiple congenital anomaly mental retardation syndrome

2013 ◽  
Vol 44 (S 01) ◽  
Author(s):  
J Vodopiutz ◽  
H Zoller ◽  
AL Fenwick ◽  
R Arnhold ◽  
M Schmid ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Multiple Congenital Anomaly

Lower Lip Pits: Van der Woude or Kabuki Syndrome?

2014 ◽  
Vol 51 (6) ◽  
pp. 729-734 ◽  
Author(s):  
Ferri P. David-Paloyo ◽  
Xuecai Yang ◽  
Ju-Li Lin ◽  
Fen-Hwa Wong ◽  
Yah-Huei Wu-Chou ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Clinical Spectrum ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Multiple Congenital Anomaly ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Long Term Prognosis

Kabuki syndrome (KS) is a multiple congenital anomaly/mental retardation syndrome with characteristic facial features. Despite more than 350 documented cases and recent correlation of MLL2 mutations as a genetic cause, its full clinical spectrum is still being defined. This report describes two patients who were initially diagnosed with Van der Woude syndrome (VWS) based on the presence of lower lip pits. However, this finding can occur with KS, albeit infrequently. For patients with lower lip pits, a thorough evaluation should be made to distinguish between VWS and KS, as there are differences in long-term prognosis.

Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)

1988 ◽  
Vol 29 (4) ◽  
pp. 909-915 ◽  
Author(s):  
Gail E. Herman ◽  
Frank Greenberg ◽  
David H. Ledbetter ◽  
John M. Optiz ◽  
James F. Reynolds
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Multiple Congenital Anomaly

scholarly journals Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome

2013 ◽  
Vol 162 (3) ◽  
pp. 612-617 ◽  
Author(s):  
Julia Vodopiutz ◽  
Heinz Zoller ◽  
Aimée L. Fenwick ◽  
Richard Arnhold ◽  
Max Schmid ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Multiple Congenital Anomaly
Sign in / Sign up

Export Citation Format

Share Document