Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

Gérard-Blanluet, Marion; Port-Lis, Marylin; Baumann, Clarisse; Perrin-Sabourin, Laurence; Ebrad, P.; Audry, G.; Delezoide, Anne‐Lise; Verloes, Alain

doi:10.1002/ajmg.a.33708

Cited by 7 publications

(4 citation statements)

References 18 publications

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“…There are two reasons we have looked to an alternative explanation. First there are cases reported where there is absence of the lateral body wall musculature, and other components such as vertebrae and ribs, and yet there is no defect in the anterior abdominal wall comparable to that seen in LBWD [Gerard‐Blanluet et al, 2010]. It seems unlikely a fetus would survive an insult so severe as to cause secondary loss of such extensive tissue, and so a primary failure to form the musculature of the lateral abdominal wall seems likely.…”

Section: Discussionsupporting

confidence: 56%

Polymer dynamics in epoxy/alumina nanocomposites studied by various techniques

Kyritsis

Vikelis

Maroulas

et al. 2011

J of Applied Polymer Sci

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Epoxy/alumina nanocomposites of various compositions were prepared by dispersing modified and nonmodified boehmite nanoparticles in diglycidyl ether of bisphenol-A using diethylenetriamine as curing agent. Measurements of the viscosity of the nanodispersions provided information on particle-particle and particle-resin interactions. The structure of the nanocomposites was studied by scanning electron microscopy on fractured samples. Effects of nanoparticles on polymer dynamics was studied in detail by dynamic mechanical thermal analysis and two dielectric techniques, broadband dielectric relaxation spectroscopy and thermally stimulated depolarization currents. Three secondary relaxations, c, b, and x, the segmental a relaxation associated with the glass transition, and an interfacial relaxation, in the order of increasing frequency/decreasing temperature, were observed and studied. A correlation between viscosity (of the nanodispersions), storage modulus, glass transition temperature, real part of dielectric permittivity, and ductility of the nanocomposites was observed.

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Section: Discussionsupporting

confidence: 56%

Polymer dynamics in epoxy/alumina nanocomposites studied by various techniques

Kyritsis

Vikelis

Maroulas

et al. 2011

J of Applied Polymer Sci

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“…There are two reasons we have looked to an alternative explanation. First there are cases reported where there is absence of the lateral body wall musculature, and other components such as vertebrae and ribs, and yet there is no defect in the anterior abdominal wall comparable to that seen in LBWD [Gerard-Blanluet et al, 2010]. It seems unlikely a fetus would survive an insult so severe as to cause secondary loss of such extensive tissue, and so a primary failure to form the musculature of the lateral abdominal wall seems likely.…”

Section: What Can Be Summarized and Concluded From An Examination Of mentioning

confidence: 99%

Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Hunter

Seaver

Stevenson

2011

American J of Med Genetics Pt A

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Aside from gastroschisis and omphalocele, major defects of the ventral body (thoracoabdominal) wall are relatively uncommon and almost universally lethal. They are most often associated with other anomalies including those of the limbs that may range from amelia to mild positional deformations, unusual craniofacial malformations, and a variety of visceral abnormalities that include the heart, lungs, genitourinary system, and gut. This complex of ventral wall anomalies has been discussed under a broad and changing nomenclature that has included amniotic band disruption complex, amnion rupture sequence, limb-body wall defect (or complex), and simply body wall complex. Three major theories have been suggested to explain this complex: early amnion rupture (operating through uterine pressure and/or disruption by amniotic bands), vascular compromise (primarily hypoperfusion), and an early intrinsic defect of the developing embryo. We present four patients that illustrate the spectrum of ventral body wall defects, and from there critique the current hypotheses of pathogenesis. We conclude that this association of malformations originates as early as the embryonic disc stage, and that some of the observed associated anomalies are secondary complications of the primary disturbance in embryogenesis. We propose a new explanation for the atypical facial clefts and cranial malformations that are often observed.

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“…We identified 59 cases of non‐isolated hemivertebra attributed to single gene disorders with a known molecular etiology as confirmed in OMIM and/or HPO query (Table 3): Jarcho‐Levin syndrome and other spondylocostal dysostoses ( DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2 ), 38–55 Craniofacial microsomia ( SF3B2, MYT1 ), 56–62 Robinow syndrome ( ROR2, WNT5A, DVL1, DVL3 ), 63–65 Klippel‐Feil syndrome ( GDF6 ), 66,67 Alagille syndrome ( JAG1, NOTCH2 ), 68,69 caudal regression syndrome with peno‐scrotal transposition ( VANGL1 ), 70,71 caudal duplication syndrome ( AXIN1 ), 72 congenital disorders of glycosylation ( SLC35A3, ALG12 ), 73,74 CHARGE syndrome ( CHD7, SEMA3E ), 75 TARP syndrome ( RBM10 ), 76 chondrodysplasia punctata ( EBP ), 77 ectodermal dysplasia, ectrodactyly and cleft lip/palate syndrome ( TP63 ), 78 unilateral abdominal wall hypoplasia ( CHRM3 ), 79 BRESEK/BRESHECK syndrome ( MBTPS2 ), 80 renal cysts and diabetes syndrome ( HNF1β ), 81 congenital short bowel syndrome ( CLMP ), 82 and EVEN‐PLUS syndrome ( HSPA9 ) 83 . These syndromes currently have a known molecular basis that was not always reported at the time of publication of the specified cases.…”

Section: Resultsmentioning

confidence: 99%

Genetics of non‐isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases

et al. 2022

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Hemivertebra is a congenital vertebral malformation caused by unilateral failure of formation during embryogenesis that may be associated with additional abnormalities.A systematic review was conducted to investigate genetic etiologies of non-isolated hemivertebra identified in the fetal, neonatal, and infant periods using PubMed, Cochrane database, Ovid Medline, and ClinicalTrials.gov from inception through May 2022 (PROSPERO ID CRD42021229576). The Human Phenotype Ontology database was accessed May 2022. Studies were deemed eligible for inclusion if they addressed non-isolated hemivertebra or genetic causes of non-isolated hemivertebra identified in the fetal, neonatal, or infant periods. Cases diagnosed clinically without molecular confirmation were included. Systematic review identified 23 cases of non-isolated hemivertebra with karyotypic abnormalities, 2 cases due to microdeletions, 59 cases attributed to single gene disorders, 18 syndromic cases without known genetic etiology, and 14 cases without a known syndromic association. The Human Phenotype Ontology search identified 49 genes associated with hemivertebra. Non-isolated hemivertebra is associated with a diverse spectrum of cytogenetic abnormalities and single gene disorders. Genetic syndromes were notably common. Frequently affected organ systems include musculoskeletal, cardiovascular, central nervous system, genitourinary, gastrointestinal, and facial dysmorphisms. When non-isolated hemivertebra is identified on prenatal ultrasound, the fetus must be assessed for associated anomalies and genetic counseling is recommended.

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Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

Cited by 7 publications

References 18 publications

Polymer dynamics in epoxy/alumina nanocomposites studied by various techniques

Polymer dynamics in epoxy/alumina nanocomposites studied by various techniques

Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Genetics of non‐isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases

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