Pena-Shokeir phenotype

ペナ・ショケイア表現型

WordNet

1. what an organism looks like as a consequence of the interaction of its genotype and the environment

PrepTutorEJDIC

1. 表現型(遺伝子の作用と環境によって表面に出る性質)

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• 5. 非免疫性胎児水腫 nonimmune hydrops fetalis

English Journal

• Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

• Ravenscroft G, Thompson EM, Todd EJ, Yau KS, Kresoje N, Sivadorai P, Friend K, Riley K, Manton ND, Blumbergs P, Fietz M, Duff RM, Davis MR, Allcock RJ, Laing NG.Author information Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia. gina.ravenscroft@uwa.edu.auAbstractThe clinically and genetically heterogenous foetal akinesias have low rates of genetic diagnosis. Exome sequencing of two siblings with phenotypic lethal multiple pterygium syndrome identified compound heterozygozity for a known splice site mutation (c.691+2T>C) and a novel missense mutation (c.956A>G; p.His319Arg) in glycogen branching enzyme 1 (GBE1). GBE1 mutations cause glycogen storage disease IV (GSD IV), including a severe foetal akinesia sub-phenotype. Re-investigating the muscle pathology identified storage material, consistent with GSD IV, which was confirmed biochemically. This study highlights the power of exome sequencing in genetically heterogeneous diseases and adds multiple pterygium syndrome to the phenotypic spectrum of GBE1 mutation.
• Neuromuscular disorders : NMD.Neuromuscul Disord.2013 Feb;23(2):165-9. doi: 10.1016/j.nmd.2012.11.005. Epub 2012 Dec 3.
• The clinically and genetically heterogenous foetal akinesias have low rates of genetic diagnosis. Exome sequencing of two siblings with phenotypic lethal multiple pterygium syndrome identified compound heterozygozity for a known splice site mutation (c.691+2T>C) and a novel missense mutation (c.9
• PMID 23218673

• Discordance in Pena-Shokeir phenotype/fetal akinesia deformation sequence in a monoamniotic twin.

• Mayumi M, Obata-Yasuoka M, Ogura T, Hamada H, Miyazono Y, Yoshikawa H.Author information Departments of Obstetrics & Gynecology Pediatrics, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.AbstractWe here report the first case of discordant Pena-Shokeir phenotype observed in monoamniotic twins. A 34-year-old woman, pregnant with twins, was referred at 10 weeks' gestation because one of the twins had increased nuchal translucency. Serial ultrasonographic examinations suggested that twin A may have had several other abnormalities, including pleural effusion at 21 weeks' gestation, decreased movement and contracted limbs at 24 weeks, and fetal growth restriction at 26 weeks. No abnormalities were observed in twin B. At 34 weeks of gestation, the twins were delivered by cesarean section. There were cord entanglements, and although the resuscitation of twin A was attempted, it proved difficult due to lockjaw. Twin A died during the second hour of life, and autopsy findings were consistent with the diagnosis of Pena-Shokeir phenotype. We suggest that cord entanglement during early gestation is a possible cause for the occurrence of Pena-Shokeir phenotype through an anoxic-ischemic mechanism.
• The journal of obstetrics and gynaecology research.J Obstet Gynaecol Res.2013 Jan;39(1):344-6. doi: 10.1111/j.1447-0756.2012.01930.x. Epub 2012 Jul 6.
• We here report the first case of discordant Pena-Shokeir phenotype observed in monoamniotic twins. A 34-year-old woman, pregnant with twins, was referred at 10 weeks' gestation because one of the twins had increased nuchal translucency. Serial ultrasonographic examinations suggested that twin A may
• PMID 22765395

• Re-visiting the embryogenesis of the human lower lip: an overlooked paradigm.

• Vastardis H, Spyropoulos MN, Burdi AR.Author information Department of Oral Biology, School of Dentistry, National and Kapodistrian University of Athens Athens, Greece.AbstractThe rare opportunity to study a human fetus showing bilateral clefting of the lower lip along with other associated anomalies resembling those of the equally rare Pena-Shokeir phenotype prompts this report. The scarcity of reports on bilateral clefts of the lower lip has strengthened the conventional understanding or, perhaps even dogma that the lower lip and jaw develop from the progressive midline merging of just two mandibular prominences in the embryo. On the basis of observations stemming from this case report, it is proposed that yet another developmental event or process (in addition to the midline merging of the mandibular prominences) may be operable in the normal morphogenesis of the lower lip and anterior mandibular region. The bilateral paramedian clefting observed provides evidence that another distinct developmental region, a small medial process complements mandibular morphogenesis.
• Frontiers in physiology.Front Physiol.2012 Aug 24;3:333. doi: 10.3389/fphys.2012.00333. eCollection 2012.
• The rare opportunity to study a human fetus showing bilateral clefting of the lower lip along with other associated anomalies resembling those of the equally rare Pena-Shokeir phenotype prompts this report. The scarcity of reports on bilateral clefts of the lower lip has strengthened the conventiona
• PMID 22934080

Japanese Journal

• Analysis of Pena Shokeir phenotype

• HALL JG.
• Am J Med Genet 25, 99-117, 1986
• NAID 30001975365

Related Links

• Analysis of Pena Shokeir phenotype.

1. Am J Med Genet. 1986 Sep;25(1):99-117. Analysis of Pena Shokeir phenotype. Hall JG. At this point in time, we recognize that "Pena Shokeir" is not a diagnosis or a specific syndrome but rather a description of a phenotype ...

• [Pena-Shokeir phenotype (fetal akinesia/hypokinesia sequence)].

1. Med Arh. 2006;60(6):383-5. [Pena-Shokeir phenotype (fetal akinesia/hypokinesia sequence)]. [Article in Bosnian] Dzinović A, Heljić S. Pedijatrijska Klinika, KCU Sarajevo. Pena-Shokeir syndrome is a rare lethal disorder which ...

• Pena-Shokeir phenotype (Fetal akinesia deformation ...

BACKGROUND: Pena and Shokeir described the phenotype of two sisters in 1974, and subsequently their features have become recognized as a sequence of deformational changes related to decreased or absent fetal movement ...

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Pena-Shokeir phenotype

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ペナ-ショケイア症候群I型 Pena-Shokeir syndrome type I