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Saethre-Chotzen syndrome with eyelid anomalies

MedGen UID:
350883
•Concept ID:
C1863370
•
Disease or Syndrome
Synonym: Saethre-Chotzen Syndrome with Eyelid Anomalies
 
OMIM®: 101400; 601622

Recent clinical studies

Etiology

Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K
Am J Med Genet A 2018 Dec;176(12):2777-2780. Epub 2018 Nov 18 doi: 10.1002/ajmg.a.40525. PMID: 30450715
Saethre-Chotzen syndrome: Case report and literature review.
Pelc A, Mikulewicz M
Dent Med Probl 2018 Apr-Jun;55(2):217-225. doi: 10.17219/dmp/91050. PMID: 30152628
Ocular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience.
Glass GE, Hon KAV, Schweibert K, Bowman R, Jones BM, Dunaway DJ, Britto JA
Plast Reconstr Surg 2017 Apr;139(4):967-975. doi: 10.1097/PRS.0000000000003178. PMID: 28350678
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
Woods RH, Ul-Haq E, Wilkie AOM, Jayamohan J, Richards PG, Johnson D, Lester T, Wall SA
Plast Reconstr Surg 2009 Jun;123(6):1801-1810. doi: 10.1097/PRS.0b013e3181a3f391. PMID: 19483581Free PMC Article
Palpebral fissure changes after monobloc frontofacial advancement in faciocraniosynostosis.
Cruz AA, Akaishi PM, Arnaud E, Marchac D, Renier D
J Craniofac Surg 2008 Jan;19(1):106-9. doi: 10.1097/scs.0b013e31815c94e1. PMID: 18216673

Diagnosis

Saethre-Chotzen syndrome: Case report and literature review.
Pelc A, Mikulewicz M
Dent Med Probl 2018 Apr-Jun;55(2):217-225. doi: 10.17219/dmp/91050. PMID: 30152628
Ocular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience.
Glass GE, Hon KAV, Schweibert K, Bowman R, Jones BM, Dunaway DJ, Britto JA
Plast Reconstr Surg 2017 Apr;139(4):967-975. doi: 10.1097/PRS.0000000000003178. PMID: 28350678
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
Kress W, Schropp C, Lieb G, Petersen B, Büsse-Ratzka M, Kunz J, Reinhart E, Schäfer WD, Sold J, Hoppe F, Pahnke J, Trusen A, Sörensen N, Krauss J, Collmann H
Eur J Hum Genet 2006 Jan;14(1):39-48. doi: 10.1038/sj.ejhg.5201507. PMID: 16251895
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations.
Nascimento SR, de Mello MP, Batista JC, Balarin MA, Lopes VL
Cleft Palate Craniofac J 2004 May;41(3):250-5. doi: 10.1597/02-131.1. PMID: 15151448
The Saethre-Chotzen syndrome.
Pantke OA, Cohen MM Jr, Witkop CJ Jr, Feingold M, Schaumann B, Pantke HC, Gorlin RJ
Birth Defects Orig Artic Ser 1975;11(2):190-225. PMID: 1227525

Therapy

Ocular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience.
Glass GE, Hon KAV, Schweibert K, Bowman R, Jones BM, Dunaway DJ, Britto JA
Plast Reconstr Surg 2017 Apr;139(4):967-975. doi: 10.1097/PRS.0000000000003178. PMID: 28350678

Prognosis

Palpebral fissure changes after monobloc frontofacial advancement in faciocraniosynostosis.
Cruz AA, Akaishi PM, Arnaud E, Marchac D, Renier D
J Craniofac Surg 2008 Jan;19(1):106-9. doi: 10.1097/scs.0b013e31815c94e1. PMID: 18216673
The K stitch for hypertelorbitism: improved soft tissue correction with glabellar width reduction.
Urrego AF, Garri JI, O'Hara CM, Kawamoto HK Jr, Bradley JP
J Craniofac Surg 2005 Sep;16(5):855-9. doi: 10.1097/01.scs.0000187694.44389.b8. PMID: 16192869
Cloverleaf skull anomaly with extreme orbitostenosis.
O'Broin ES, O'Keefe M, Allcutt D, Earley MJ
J Craniofac Surg 1997 Jan;8(1):75-7. doi: 10.1097/00001665-199701000-00023. PMID: 10332303
Type 3 Pfeiffer syndrome with normal thumbs.
Kerr NC, Wilroy RS Jr, Kaufman RA
Am J Med Genet 1996 Dec 11;66(2):138-43. doi: 10.1002/(SICI)1096-8628(19961211)66:2<138::AID-AJMG3>3.0.CO;2-N. PMID: 8958319

Clinical prediction guides

Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K
Am J Med Genet A 2018 Dec;176(12):2777-2780. Epub 2018 Nov 18 doi: 10.1002/ajmg.a.40525. PMID: 30450715
Saethre-Chotzen syndrome: Case report and literature review.
Pelc A, Mikulewicz M
Dent Med Probl 2018 Apr-Jun;55(2):217-225. doi: 10.17219/dmp/91050. PMID: 30152628
The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family.
Kopyść Z, Stańska M, Ryzko J, Kulczyk B
Hum Genet 1980;56(2):195-204. doi: 10.1007/BF00295694. PMID: 7450776

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