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Humeroradial synostosis with craniofacial anomalies

MedGen UID:
369834
•Concept ID:
C1968717
•
Disease or Syndrome
Synonym: Humeroradial Synostosis with Craniofacial Anomalies
 
Monarch Initiative: MONDO:0009357
OMIM®: 236410

Recent clinical studies

Etiology

Anesthetic risks associated with Antley-Bixler syndrome.
Gençay I, Vargel I, Büyükkoçak U, Yazc I, Apan A
J Craniofac Surg 2013 Jan;24(1):e21-3. doi: 10.1097/SCS.0b013e318267be0f. PMID: 23348324

Diagnosis

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.
Schneeberger PE, Nayak SS, Fuchs S, Kutsche K, Girisha KM
Am J Med Genet A 2020 Nov;182(11):2793-2796. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61826. PMID: 32783269

Therapy

Anesthetic risks associated with Antley-Bixler syndrome.
Gençay I, Vargel I, Büyükkoçak U, Yazc I, Apan A
J Craniofac Surg 2013 Jan;24(1):e21-3. doi: 10.1097/SCS.0b013e318267be0f. PMID: 23348324

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