نتایج جستجو برای: holoprosencephaly

تعداد نتایج: 755  

Journal: :Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2007
M Borenstein N Persico T Dagklis E Faros K H Nicolaides

OBJECTIVE To investigate the frontomaxillary facial (FMF) angle in fetuses with trisomy 13 at 11 + 0 to 13 + 6 weeks of gestation. METHODS A three-dimensional (3D) volume of the fetal head was obtained before karyotyping at 11 + 0 to 13 + 6 weeks of gestation in 23 fetuses with trisomy 13. The FMF angle, defined as the angle between the upper surface of the maxilla and the frontal bone in a m...

Journal: :Journal of Medical Genetics 1998

Journal: :American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2010

Journal: :Frontiers in bioscience : a journal and virtual library 2000
L Nanni R L Schelper M T Muenke

Holoprosencephaly (HPE) is a common developmental defect of the human forebrain and midface. Pathological studies have identified different categories of severity of the brain and craniofacial malformations observed in HPE, although the variable clinical spectrum of HPE extends in unbroken sequence from alobar HPE and cyclopia to clinically unaffected carriers in familial HPE. The etiology of H...

Abdollahimohammad, Abdolghani , Amirshahi, Mehrbanu , Kerami, Azam , Mansoorifar, Leila , Mirshekari, Fatemeh , Mirshekari, Leila , Mirshekari, Marzeeh , Naroei, Fereshteh , Salehi, Ashraf , Sanagoo, Akram ,

Holoprosencephaly (HPE) is a rare congenital brain malformation associated with multiple midline facial defects. This anomaly is resulted from the failure of diverticulation and cleavage of primitive prosencephalon during weeks 4-8 of gestation. HPE is the most common forebrain developmental anomaly in human with the incidence rate of 0.49-1.2 cases per 10,000-20,000 term births. In this study,...

Journal: :AJNR. American journal of neuroradiology 2009
C K Byun K H Chao M S Tenner J Y Hu G K Paek

Holoprosencephaly Holoprosencephaly encompasses a variety of brain malformations and is thought to be a result of failure of cleavage of the prosencephalon into the diencephalon and telencephalon and/or stemming from a defect in the normal induction and patterning of the rostral neural tube, which normally occurs in the first 4 weeks after conception. We present a case of semilobar holoprosence...

2012
Jennifer F. Dennis Hiroshi Kurosaka Angelo Iulianella Jennifer Pace Nancy Thomas Sharon Beckham Trevor Williams Paul A. Trainor

Holoprosencephaly (HPE) is a failure of the forebrain to bifurcate and is the most common structural malformation of the embryonic brain. Mutations in SHH underlie most familial (17%) cases of HPE; and, consistent with this, Shh is expressed in midline embryonic cells and tissues and their derivatives that are affected in HPE. It has long been recognized that a graded series of facial anomalies...

Journal: :Neurosciences 2008
Mathew P Cherian Nouriya A Al-Sanna'a

Holoprosencephaly (HPE) is a defect of embryonic forebrain resulting from failure of growth and segmentation of the anterior end of the neural tube. It has been classified into 4 types based on the severity of associated brain and facial malformations. The most severe variety called alobar HPE is generally associated with major cranio-facial anomalies such as cyclopia, ethmocephaly, cebocephaly...

2014
Rajesh Raman Geetha Mukunda Jagadesh

A twenty-year-old second gravida presented to the department of radiodiagnosis for routine obstetric ultrasound examination. Ultrasonography revealed a live fetus of 17 weeks with absent falx, fused thalami, monoventricle, proboscis, and cyclopia. Fetal MRI was performed and the findings were confirmed. Even though ultrasonography is diagnostic in the detection of fetal anomalies, MRI plays a v...

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