Document Detail

An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses.
MedLine Citation:
PMID:  21594997     Owner:  NLM     Status:  MEDLINE    
We describe an infant male of Cambodian background who has typical craniofacial features of mycophenolate mofetil (MMF) embryopathy and a complex congenital heart defect (CHD) (double outlet right ventricle, mitral atresia, pulmonic stenosis, and total anomalous pulmonary venous return). Together with four case reports and the 20 patients included in two recent reviews, we report 24 (19 affected, five normal) patients with this pattern of anomalies. Eight (33%) have a CHD, most commonly, conotruncal or aortic arch defects (6/8, 75%). This would support the hypothesis that disturbance of cranial neural crest migration occurs in exposed infants, and may predict which additional anomalies will be observed in the future. We also attempted to score the severity of the facial anomalies in each MMF patient using a system created by plastic surgeons for patients with hemifacial microsomia. This classification had modest utility in comparing severity and correlating facial to extracranial defects. The findings are viewed with caution because of the preliminary methodology. Finally, since several exposed infants have been reported to be minimally affected, we remind clinicians to be sensitive to the potential mild expression of the effects of this teratogen. This awareness may influence clinical management of apparently normal MMF-exposed individuals.
Angela E Lin; Kathryn E Singh; Arthur Strauss; Son Nguyen; Kristyn Rawson; Virginia E Kimonis
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2011-03-15
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  155A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-05-19     Completed Date:  2011-08-30     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  748-56     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Wiley-Liss, Inc.
Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA.
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MeSH Terms
Face / abnormalities*
Fetal Diseases / chemically induced*,  diagnosis*
Heart Defects, Congenital / chemically induced*
Immunosuppressive Agents / adverse effects*
Infant, Newborn
Middle Aged
Mycophenolic Acid / adverse effects,  analogs & derivatives*
Reg. No./Substance:
0/Immunosuppressive Agents; 24280-93-1/Mycophenolic Acid; 9242ECW6R0/mycophenolate mofetil

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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