نتایج جستجو برای: jarcho levin

تعداد نتایج: 2796  

2013
Suken A. Shah Kit Song

Congenital scoliosis is defined as a lateral deviation of the spine associated with one of a broad range of congenital vertebral malformations (CVMs) that can form during in utero development. It is distinct from other spinal deviations in which malformations do not occur and can present as an isolated spine anomaly or be associated with a large number of visceral organ and syndromic abnormalit...

Journal: :Arquivos de neuro-psiquiatria 2014
Paulo Victor Sgobbi de Souza Wladimir Bocca Vieira de Rezende Pinto Acary Souza Bulle Oliveira

A 52-year-old man presented with a 2-year-history of recurrent torticollis and headache associated with physical exertion (including evacuation). His physical examination disclosed short neck and brachycephaly. Neuroimaging studies (Figures 1 and 2) revealed basilar invagination and brainstem compression without other craniocervical junction abnormalities or systemic diseases. Basilar invaginat...

Journal: :Acta otorrinolaringologica espanola 2013
Liliana A Muñoz-Pedroza María L Arenas-Sordo

Facio-Auriculo-Vertebral (FAV) spectrum, also known as Goldenhar syndrome or first and second branchial arch syndrome, is a complex of mainly craniofacial and vertebral anomalies. Microtia is a principal malformation in this complex; it can be unilateral or bilateral. We performed an observational, retrospective, transverse descriptive clinical study, reviewing 149 records of patients with a di...

Journal: :Human molecular genetics 2003
Thomas Gridley

The Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in organisms as diverse as insects, nematodes, echinoderms and mammals. Disruptions in conserved developmental pathways frequently result in inherited congenital anomalies in humans. Mutations in genes encoding Notch pathway components underlie three inherited...

2013
Singh Hasan Ranjan

Introduction: Foetal spinal cord has been the focus of interest by many scientists but the information regarding lumbar enlargement received very little attention, though important for clinical applications. Morphological studies were limited to vertebral canal and spinal cord during prenatal and postnatal periods . Readings of maximum transverse diameter of lumbar enlargement of foetal spinal ...

2003
Yuri V. Kovchegov

We discuss expectations of saturation physics for various observables in heavy ion collisions. We show how simple saturation-inspired assumptions about particle production in heavy ion collisions lead to Kharzeev-Levin-Nardi model. Comparing this model to RHIC data on particle multiplicities we conclude that saturation effects may play an important role in particle production and dynamics at th...

Journal: :Folia morphologica 2018
I Ş Bayrakdar Y Yasa Ş B Duman U E Karaturgut A Ocak S G Yılmaz

BACKGROUND Ponticulus posticus (PP) is an abnormal bony bridge on the atlas. It plays a significant role in patients undergoing C1 lateral mass screw procedure. Patients with cleft lip and palate (CLP) have higher risk than patients in general population for the appearance of cervical vertebral anomalies. The purpose of the this study was twofold: to determine the prevalence and characteristics...

2017
Adil Basman Gulsun Akay Ilkay Peker Kahraman Gungor Zuhre Akarslan Suat Ozcan Cemile Ozlem Ucok

Robinow syndrome (RS) is an extremely rare condition. Characteristic craniofacial findings of RS include a fetal facial appearance, ear abnormalities and oral findings. The aim of this case report was to evaluate the oral findings of a 26-year-old man with RS and to describe the dental treatments performed. The patient had short stature, vertebral anomalies, short and broad fingers, a fetal fac...

2016
Mauro Antonio Dall AGNOL Amy Louise BROWN Luiz Alexandre THOMAZ José Luiz Cintra JUNQUEIRA Luciana Butini OLIVEIRA

Goldenhar Syndrome is a rare, generally sporadic condition, whose physical manifestations include asymmetric incomplete facial development, epibulbar dermoids, auricular malformations e auricular appendices, vertebral anomalies, central nervous system disturbances, ocular irregularities and visceral abnormalities. Its etiology is not fully understood, with its incidence ranging from 1:3500 to 1...

2013
Anjan Kumar Dhua Shandip Sinha Simmi Ratan Satish Aggarwal

Duplication of penis has been reported to occur once in every 5 to 6 million live births.[1] It presents as duplication of only glans to complete duplication of the phallus and usually associated with other anomalies like bifid scrotum, double bladder, vertebral anomalies and ano-rectal malformations etc.[2] With this backdrop, herein we present a newborn with complete duplication of the entire...

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