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Hereditary syndromic Pierre Robin syndrome

MedGen UID:
1842567
•Concept ID:
C5680982
•
Disease or Syndrome
Synonym: Genetic syndromic Pierre Robin syndrome
 
Orphanet: ORPHA363294

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary syndromic Pierre Robin syndrome

Recent clinical studies

Etiology

Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome.
Couchouron T, Masson C
Joint Bone Spine 2011 Jan;78(1):45-9. Epub 2010 May 11 doi: 10.1016/j.jbspin.2010.03.012. PMID: 20462780
Clinical and Molecular genetics of Stickler syndrome.
Snead MP, Yates JR
J Med Genet 1999 May;36(5):353-9. PMID: 10353778Free PMC Article
Hereditary progressive arthro-ophthalmopathy of Stickler.
Blair NP, Albert DM, Liberfarb RM, Hirose T
Am J Ophthalmol 1979 Nov;88(5):876-88. doi: 10.1016/0002-9394(79)90566-x. PMID: 507166

Diagnosis

Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
Lehky T, Joseph R, Toro C, Wu T, Van Ryzin C, Gropman A, Facio FM, Webb BD, Jabs EW, Barry BS, Engle EC, Collins FS, Manoli I; Moebius Syndrome Research Consortium
Muscle Nerve 2021 Apr;63(4):516-524. Epub 2021 Jan 19 doi: 10.1002/mus.27159. PMID: 33389762Free PMC Article
Femoral-facial syndrome in an infant of a diabetic mother.
Ahmed S, Alsaedi SA, Al-Wassia H, Al-Aama JY
BMJ Case Rep 2015 Jul 6;2015 doi: 10.1136/bcr-2014-208857. PMID: 26150620Free PMC Article
Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome.
Soulier M, Sigaudy S, Chau C, Philip N
Prenat Diagn 2002 Jul;22(7):567-8. doi: 10.1002/pd.369. PMID: 12124689
Hereditary progressive arthro-ophthalmopathy of Stickler.
Blair NP, Albert DM, Liberfarb RM, Hirose T
Am J Ophthalmol 1979 Nov;88(5):876-88. doi: 10.1016/0002-9394(79)90566-x. PMID: 507166

Prognosis

Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome.
Couchouron T, Masson C
Joint Bone Spine 2011 Jan;78(1):45-9. Epub 2010 May 11 doi: 10.1016/j.jbspin.2010.03.012. PMID: 20462780
Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome.
Soulier M, Sigaudy S, Chau C, Philip N
Prenat Diagn 2002 Jul;22(7):567-8. doi: 10.1002/pd.369. PMID: 12124689
Hereditary progressive arthro-ophthalmopathy of Stickler.
Blair NP, Albert DM, Liberfarb RM, Hirose T
Am J Ophthalmol 1979 Nov;88(5):876-88. doi: 10.1016/0002-9394(79)90566-x. PMID: 507166

Clinical prediction guides

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.
Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE
Genomics 1987 Dec;1(4):293-6. doi: 10.1016/0888-7543(87)90027-9. PMID: 2896625

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