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Pena-Shokeir syndrome type 2

MedGen UID:
444018
•Concept ID:
C2931277
•
Disease or Syndrome
Synonym: Pena Shokeir syndrome Type 2

Recent clinical studies

Etiology

Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review.
Hoellen F, Schröer A, Kelling K, Krapp M, Axt-Fliedner R, Gembruch U, Weichert J
Fetal Diagn Ther 2011;30(4):289-98. Epub 2011 Dec 8 doi: 10.1159/000331401. PMID: 22156407

Diagnosis

Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation.
Pittyanont S, Jatavan P, Suwansirikul S, Tongsong T
J Clin Ultrasound 2016 Sep;44(7):459-62. Epub 2016 Jun 17 doi: 10.1002/jcu.22373. PMID: 27312123
Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review.
Hoellen F, Schröer A, Kelling K, Krapp M, Axt-Fliedner R, Gembruch U, Weichert J
Fetal Diagn Ther 2011;30(4):289-98. Epub 2011 Dec 8 doi: 10.1159/000331401. PMID: 22156407

Prognosis

Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review.
Hoellen F, Schröer A, Kelling K, Krapp M, Axt-Fliedner R, Gembruch U, Weichert J
Fetal Diagn Ther 2011;30(4):289-98. Epub 2011 Dec 8 doi: 10.1159/000331401. PMID: 22156407

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