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Dysostosis with predominant craniofacial involvement

MedGen UID:
1842551
•Concept ID:
C5681592
•
Disease or Syndrome
Orphanet: ORPHA93453

Recent clinical studies

Etiology

Saethre-Chotzen Syndrome: A Report of 7 Patients and Review of the Literature.
Abulezz TA, Allam KA, Wan DC, Lee JC, Kawamoto HK
Ann Plast Surg 2020 Sep;85(3):251-255. doi: 10.1097/SAP.0000000000002391. PMID: 32487807
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
Li X, Jiang M, Han W, Zhao N, Liu W, Sui Y, Lu Y, Li J
Gene 2013 Sep 25;527(2):630-5. Epub 2013 Jul 11 doi: 10.1016/j.gene.2013.06.082. PMID: 23850728
Objectification of cranial vault correction for craniosynostosis by three-dimensional photography.
Wilbrand JF, Szczukowski A, Blecher JC, Pons-Kuehnemann J, Christophis P, Howaldt HP, Schaaf H
J Craniomaxillofac Surg 2012 Dec;40(8):726-30. Epub 2012 Feb 23 doi: 10.1016/j.jcms.2012.01.007. PMID: 22364839
Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?
Zhang Y, Dai Y, Liu Y, Ren J
Clin Genet 2010 Dec;78(6):570-4. doi: 10.1111/j.1399-0004.2010.01427.x. PMID: 20412112

Diagnosis

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.
Raposo BK, Ferreira GB, Silva ABDE, Ono MCC, de Souza J, da Silva Freitas R
J Craniofac Surg 2022 Jan-Feb 01;33(1):230-232. doi: 10.1097/SCS.0000000000007962. PMID: 34261967
Saethre-Chotzen Syndrome: A Report of 7 Patients and Review of the Literature.
Abulezz TA, Allam KA, Wan DC, Lee JC, Kawamoto HK
Ann Plast Surg 2020 Sep;85(3):251-255. doi: 10.1097/SAP.0000000000002391. PMID: 32487807

Prognosis

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.
Raposo BK, Ferreira GB, Silva ABDE, Ono MCC, de Souza J, da Silva Freitas R
J Craniofac Surg 2022 Jan-Feb 01;33(1):230-232. doi: 10.1097/SCS.0000000000007962. PMID: 34261967
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
Li X, Jiang M, Han W, Zhao N, Liu W, Sui Y, Lu Y, Li J
Gene 2013 Sep 25;527(2):630-5. Epub 2013 Jul 11 doi: 10.1016/j.gene.2013.06.082. PMID: 23850728
Objectification of cranial vault correction for craniosynostosis by three-dimensional photography.
Wilbrand JF, Szczukowski A, Blecher JC, Pons-Kuehnemann J, Christophis P, Howaldt HP, Schaaf H
J Craniomaxillofac Surg 2012 Dec;40(8):726-30. Epub 2012 Feb 23 doi: 10.1016/j.jcms.2012.01.007. PMID: 22364839

Clinical prediction guides

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.
Raposo BK, Ferreira GB, Silva ABDE, Ono MCC, de Souza J, da Silva Freitas R
J Craniofac Surg 2022 Jan-Feb 01;33(1):230-232. doi: 10.1097/SCS.0000000000007962. PMID: 34261967
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL, Jeelani NO, Johnson D, Lester T, Lord H, Morton JEV, Nishikawa H, Noons P, Schwiebert K, Shipster C, Taylor-Beadling A, Twigg SRF, Vasudevan P, Wall SA, Wilkie AOM, Wilson LC
Am J Med Genet A 2019 Apr;179(4):615-627. Epub 2019 Feb 13 doi: 10.1002/ajmg.a.61073. PMID: 30758909Free PMC Article
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
Li X, Jiang M, Han W, Zhao N, Liu W, Sui Y, Lu Y, Li J
Gene 2013 Sep 25;527(2):630-5. Epub 2013 Jul 11 doi: 10.1016/j.gene.2013.06.082. PMID: 23850728

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