Face Malformation

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The Experts below are selected from a list of 18 Experts worldwide ranked by ideXlab platform

Huang Liqing - One of the best experts on this subject based on the ideXlab platform.

Xu Li - One of the best experts on this subject based on the ideXlab platform.

Ran Su-zhen - One of the best experts on this subject based on the ideXlab platform.

  • Clinical value of ultrasound screening for fetus Face Malformations with ultrasound in early trimester
    Chinese Journal of Medical Imaging Technology, 2020
    Co-Authors: Ran Su-zhen
    Abstract:

    Objective To assess the feasibility of ultrasound in diagnosis of fetus Face Malformations in early gestation.Methods Totally 13 611 pregnant women with gestational age of 11—13+6 weeks underwent ultrasonography.The fetus Face and nuchal translucency were observed.Results Totally 11 fetuses of Face Malformations or suspected abnormality were diagnosed with ultrasound,including 1 narrow eye distance,5 absence or unclear nasal bone,3 unclear upper jaw and 2 cheilopalatognathus.Missed diagnosis occurred in 9 fetuses,including 3 of cleft lip,1 of chilopalatognathus,5 of external ear shape or size abnormality.All of the fetuses were confirmed with induced or postnatal follow-up.Conclusion It is feasible to diagnosis part of Face Malformation in early gestation with ultrasound,but missed diagnosis and misdiagnosis may occur.Ultrasonography in middle gestation is necessary for susceptible Malformation.

Zhu Xi - One of the best experts on this subject based on the ideXlab platform.

  • Combination of ultrasound and MRI in the diagnosis of holoprosencephaly in fetuses
    Chinese Journal of Medical Ultrasound, 2020
    Co-Authors: Zhu Xi
    Abstract:

    Objective To explore the application of two-dimensional ultrasound(2D-US)、 three-dimensional ultrasound(3D-US)multi-slice view(MSV)and magnetic resonance imaging(MRI)in diagnosis of fetus holoprosencephaly(HPE).Methods The fetuses suspected or diagnosed as HPE by 2D-US received 3D-US examination.The acquired volume images were analyzed by multislices view(MSV)model and the fetuses received MRI.Then the results were compared and analysed.Results A total of 9 fetuses were diagnosed as HPE and 6 fetuses were suspected as HPE by 2D-US.Thirteen alobar HPE and 6 semilobar HPE were diagnosed by MSV.MSV could provide more information than 2D-US.Eleven alobar HPE and 4 semilobar HPE were diagnosed by MRI.MRI could provide multiple sequential coronal and axial planes of fetal brain simultaneously and be superior to 2D-US and MSV in diagnosis of brain parenchyma,cerebral falx and fissure.Of all,there were 9 cases complicated with Face Malformation,4 with cardiac abnormality and 1 with spinal deformity,all of which were confirmed by autopsy.Ten alobar HPE and 5 semilobar HPE were confirmed.Conclusion The 3D-MSV model can visualize intracal structure in axial and coronal planes of HPE and be superior to 2D-US in semilobar HPE.MRI is obviously superior to 2D-US and 3D-MSV in diagnosis of HPE.But compared with MSV and MRI,2D-US had obvious advantages in detection of the associated cardiac abnormal HPE.Combining 2D ultrasonography with 3D-MSV and MRI,rt HPE could be further assessed,therefore the diagnostic accuracy of HPE could be greatly improved.

Stephen M. Jane - One of the best experts on this subject based on the ideXlab platform.

  • Regional neural tube closure defined by the Grainy head-like transcription factors
    Developmental Biology, 2010
    Co-Authors: Yeliz Rifat, Vishwas Parekh, Tomasz Wilanowski, Nikki R. Hislop, Alana Auden, Stephen B. Ting, John M. Cunningham, Stephen M. Jane
    Abstract:

    Primary neurulation in mammals has been defined by distinct anatomical closure sites, at the hindbrain/cervical spine (closure 1), forebrain/midbrain boundary (closure 2), and rostral end of the forebrain (closure 3). Zones of neurulation have also been characterized by morphologic differences in neural fold elevation, with non-neural ectoderm-induced formation of paired dorso-lateral hinge points (DLHP) essential for neural tube closure in the cranial and lower spinal cord regions, and notochord-induced bending at the median hinge point (MHP) sufficient for closure in the upper spinal region. Here we identify a unifying molecular basis for these observations based on the function of the non-neural ectoderm-specific Grainy head-like genes in mice. Using a gene-targeting approach we show that deletion of Grhl2 results in failed closure 3, with mutants exhibiting a split-Face Malformation and exencephaly, associated with failure of neuro-epithelial folding at the DLHP. Loss of Grhl3 alone defines a distinct lower spinal closure defect, also with defective DLHP formation. The two genes contribute equally to closure 2, where only Grhl gene dosage is limiting. Combined deletion of Grhl2 and Grhl3 induces severe rostral and caudal neural tube defects, but DLHP-independent closure 1 proceeds normally in the upper spinal region. These findings provide a molecular basis for non-neural ectoderm mediated formation of the DLHP that is critical for complete neuraxis closure.