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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Hereditary syndromic Pierre Robin syndrome

Hereditary syndromic Pierre Robin syndrome
- Intellectual disability-brachydactyly-Pierre Robin syndrome
- TARP 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: 10353778 Free 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

See all (3)

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: 33389762 Free 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: 26150620 Free 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

See all (4)

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

See all (3)

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

See all (1)

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Hereditary syndromic Pierre Robin syndrome

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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