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Page 1
Analysis of Pena Shokeir phenotype.
Hall JG. Hall JG. Am J Med Genet. 1986 Sep;25(1):99-117. doi: 10.1002/ajmg.1320250112. Am J Med Genet. 1986. PMID: 3541610 Review.
In the meantime, we would do well to use the terms "Pena Shokeir phenotype" or "fetal akinesia/hypokinesia sequence," which do not imply a single entity. There are many practical aspects of recognizing this phenotype. The presence of any one of the car …
In the meantime, we would do well to use the terms "Pena Shokeir phenotype" or "fetal akinesia/hypokinesia sequence …
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
Furukawa S, Kato M, Nomura T, Sumitomo N, Yoneno S, Nakashima M, Saitsu H. Furukawa S, et al. Am J Med Genet A. 2024 Mar;194(3):e63453. doi: 10.1002/ajmg.a.63453. Epub 2023 Oct 23. Am J Med Genet A. 2024. PMID: 37870493
Here, we describe a patient with compound heterozygous ATP1A2 variants consisting of missense and nonsense variants. He survived after birth with brain malformations and the fetal akinesia/hypokinesia sequence. We report a novel type of compound hetero …
Here, we describe a patient with compound heterozygous ATP1A2 variants consisting of missense and nonsense variants. He survived after birth …
Fetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variability.
Bacino CA, Platt LD, Garber A, Carlson D, Pepkowitz S, Lachman RS, Sharony R, Rimoin DL, Graham JM Jr. Bacino CA, et al. Prenat Diagn. 1993 Nov;13(11):1011-9. doi: 10.1002/pd.1970131102. Prenat Diagn. 1993. PMID: 8140062
When movement is absent or decreased, abnormal development takes place which can be appreciated in newborns and/or fetuses with the fetal akinesia/hypokinesia sequence. This sequence is caused by a number of heterogeneous entities which result in decre …
When movement is absent or decreased, abnormal development takes place which can be appreciated in newborns and/or fetuses with the fetal …
Prenatal sonographic diagnosis of short umbilical cord in a dichorionic twin with normal fetal anatomy.
Sherer DM, Dalloul M, Ajayi O, Kheyman M, Sokolovski M, Abulafia O. Sherer DM, et al. J Clin Ultrasound. 2010 Feb;38(2):91-3. doi: 10.1002/jcu.20639. J Clin Ultrasound. 2010. PMID: 19802888
Short umbilical cords are associated with fetal anomalies, often including those with decreased or absent fetal movement, fetal akinesia/hypokinesia sequence, and restrictive dermopathies and aneuploidy. ...
Short umbilical cords are associated with fetal anomalies, often including those with decreased or absent fetal movement, fetal ak …
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.
Sztriha L, Al-Gazali LI, Várady E, Goebel HH, Nork M. Sztriha L, et al. Neuropediatrics. 1999 Jun;30(3):141-5. doi: 10.1055/s-2007-973479. Neuropediatrics. 1999. PMID: 10480209
Large areas of muscle were replaced by adipofibrous tissue. The infants had dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. The abnormalities were suggestive of microlissencephaly probably associated with a dysgenetic proce …
Large areas of muscle were replaced by adipofibrous tissue. The infants had dysmorphic features consistent with the fetal akinesia …
Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome?
Seidahmed MZ, Sunada Y, Ozo CO, Hamid F, Campbell KP, Salih MA. Seidahmed MZ, et al. Neuropediatrics. 1996 Dec;27(6):305-10. doi: 10.1055/s-2007-973799. Neuropediatrics. 1996. PMID: 9050048
We report on two sisters of first degree cousin parents who were born with severe hypotonia, arthrogryposis multiplex congenita (AMC) and dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. They needed assisted ventilation and …
We report on two sisters of first degree cousin parents who were born with severe hypotonia, arthrogryposis multiplex congenita (AMC) and dy …