Document Detail


Unusual facial cleft in Fryns syndrome: defect of stomodeum?
MedLine Citation:
PMID:  20681225     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Unusual facial cleft in Fryns syndrome: defect of stomodeum?: We report on a fetus with Fryns syndrome. The facial cleft was unusual. There was bilateral cleft lip with cleft palate. The intermaxillary segment was connected through the base of a mound in the midline to the lower lip. We believe this is an atypical facial cleft in Fryns syndrome and likely represents a defective stomodeum.
Authors:
K M Girisha; P Bhat; P K Adiga; A H Pai; L Rai
Related Documents :
19793345 - A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ect...
9722015 - A case of split notochord syndrome: presence of dorsal enteric diverticulum adjacent to...
17431905 - Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts...
16149825 - Hypoplasia and hypodontia in van der woude syndrome.
19539845 - A novel regimen of vorinostat with interferon gamma for refractory sézary syndrome.
18660475 - Choroid plexus hyperplasia and monosomy 1p36: report of new findings.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  21     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2010  
Date Detail:
Created Date:  2010-08-04     Completed Date:  2010-09-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  233-6     Citation Subset:  IM    
Affiliation:
Genetics Clinic, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India. girishkatta@gmail.com
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple*
Cleft Lip
Dandy-Walker Syndrome
Face / abnormalities*
Fetal Diseases*
Hernia, Diaphragmatic / congenital
Humans
Male
Syndrome

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


Previous Document:  A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
Next Document:  A case with balanced reciprocal translocation t(5;11)(q32;q24.2) and situs inversus viscerum.