Preferred Label : pierre robin syndrome;

MeSH definition : Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.;

MeSH synonym : syndrome, pierre-robin; robin syndrome, pierre; syndrome, pierre robin; glossoptosis, micrognathia, and cleft palate; pierre robin sequence; sequence, pierre robin; Pierre-Robin syndrome; pierre robin's sequence; pierre robins sequence; sequence, pierre robin's; Robin Sequence; Sequence, Robin;

CISMeF synonym : Pierre-Robin; Pierre Robin; pierre robin's syndrome;

MeSH annotation : named for French dentist Pierre Robin: Robin is his surname; note: no hyphen;

Wikipedia link : https://en.wikipedia.org/wiki/Pierre robin syndrome;

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Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.

https://www.has-sante.fr/jcms/p_3293457/fr/sequence-de-pierre-robin
2021
France
practice guideline
robin
Handbook
chronic disease, nos
chronic disease
Diseases
pierre robin syndrome
Chronic disease

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https://dumas.ccsd.cnrs.fr/dumas-01957789/document
2018
France
dissertations, academic
knowledge
pierre robin syndrome
insight, nos
robin
acquaintance
attention
midwifery
midwives
parents
parent, nos
attention, nos

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3104
false
true
false
France
scientific and technical information
pierre robin syndrome
Robin sequence and oligodactyly
robin sequence and oligodactyly

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3323
2014
false
true
false
France
scientific and technical information
thrombocytopenia
pierre robin syndrome

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2886
false
true
false
France
scientific and technical information
pierre robin syndrome
heart defects, congenital
foot deformities, congenital
clubfoot

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3338
2012
false
true
false
France
heart defects, congenital
craniofacial abnormalities
urogenital abnormalities
pierre robin syndrome
child
infant
scientific and technical information
agenesis of corpus callosum
corpus callosum, agenesis of, with facial anomalies and robin sequence
limb deformities, congenital

---
http://association-calin-vole.blogs.afm-telethon.fr/
false
France
French
pierre robin syndrome
association of patients
forum and mailing list for patients

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http://www.tousalecole.fr/content/pierre-robin-syndrome-de
2011
true
France
French
schools
child
popular works
pierre robin syndrome
Mainstreaming, Education

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http://www.orpha.net/data/patho/Pub/fr/PierreRobin-FRfrPub562.pdf
2010
true
France
French
pierre robin syndrome
pierre robin syndrome
popular works

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=718
2006
France
French
pierre robin syndrome
pierre robin syndrome
signs and symptoms
rare diseases
scientific and technical information

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http://www.snof.org/maladies/pierre_robin.html
2004
France
French
pierre robin syndrome
pierre robin syndrome
signs and symptoms
popular works
image

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01/11/2024


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