Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited (Q37567623)

21 August 2017

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title

Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited (English)

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fetal akinesia deformation sequence

21 August 2017

main subject

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Judith G Hall

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1 August 2009

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Birth Defects Research Part A: Clinical and Molecular Teratology

21 August 2017

published in

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21 August 2017

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21 August 2017

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21 August 2017

page(s)

677-694

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Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy

21 August 2017

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Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings

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Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset

21 January 2018

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Laryngotracheal stenosis in a case of Pena-Shokier syndrome

21 January 2018

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Arthrogryposis and multicystic encephalopathy after acute fetal distress in the end stage of gestation

21 January 2018

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The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome

21 January 2018

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Disturbances in neuronal migration and laminar cortical organization associated with multicystic encephalopathy in the Pena-Shokeir syndrome

21 January 2018

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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

21 January 2018

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Severe fetal brain dysgenesis with focal calcification.

21 January 2018

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Anterior horn cell disease associated with pontocerebellar hypoplasia in infants

21 January 2018

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The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions

21 January 2018

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The familial syndrome of proliferative vasculopathy and hydranencephaly-hydrocephaly: immunocytochemical and ultrastructural evidence for endothelial proliferation

21 January 2018

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Analysis of Pena Shokeir phenotype

21 January 2018

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Pena-Shokeir phenotype associated with bilateral opercular polymicrogyria

21 January 2018

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A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases

21 January 2018

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A lethal autosomal recessive syndrome of multiple congenital contractures

21 January 2018

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Microcephaly, holoprosencephaly, hypokinesia--second report of a new syndrome

21 January 2018

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Artrogryposis multiplex congenita -- a rare fetal condition caused by maternal myasthenia gravis

21 January 2018

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Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system

21 January 2018

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Arthrogryposis multiplex congenita: An autopsy case of a fatal form

21 January 2018

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Axonal dystrophy in a case of connatal thalamic and brain stem degeneration

21 January 2018

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Pena-Shokeir phenotype in sibs with macrocephaly but without growth retardation

21 January 2018

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Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals

21 January 2018

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Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy

21 January 2018

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Arthrogryposis multiplex congenita-prenatal assessment with diagnostic ultrasound and fetoscopy

21 January 2018

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Olivo-ponto-cerebellar atrophy with muscular atrophy, joint contractures and pulmonary hypoplasia of prenatal onset

21 January 2018

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Prenatal diagnosis of a new syndrome: holoprosencephaly with hypokinesia

21 January 2018

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Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families

21 January 2018

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Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy

21 January 2018

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Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway

21 January 2018

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Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway

21 January 2018

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Cerebellar hypoplasia in Werdnig-Hoffmann disease

21 January 2018

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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

21 January 2018

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Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?

21 January 2018

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Lethal arthrogryposis multiplex congenita: a pathological study of 21 cases

21 January 2018

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Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function

21 January 2018

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Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

21 January 2018

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Hypomyelination neuropathy in a female newborn presenting as arthrogryposis multiplex congenita

21 January 2018

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Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: three new cases and review of the literature

21 January 2018

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Diagnostic criteria and genetics of the PEHO syndrome

21 January 2018

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Neuropathology of infant with Pena-Shokeir I syndrome

21 January 2018

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Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.

21 January 2018

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Hypoplasia of posterior spinal roots and dorsal spinal tracts with arthrogryposis multiplex congenita

21 January 2018

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Lethal arthrogryposis with anterior horn cell disease

21 January 2018

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Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years

21 January 2018

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Syndrome of camptodactyly, facial anomalies, and pulmonary hypoplasia

21 January 2018

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The spectrum of arthrogryposis in 33 chinese children

21 January 2018

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Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex

21 January 2018

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Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation

21 January 2018

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Pathologic features in two siblings with the Pena-Shokeir I syndrome

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/BDRA.20611

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21 August 2017

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