Pai Syndrome: An Adult Patient with Bifid Nose and Frontal Hairline Marker

2003 ◽  
Vol 40 (3) ◽  
pp. 325-328 ◽  
Author(s):  
Y. Kenan Coban ◽  
Cetin Boran ◽  
S. Alp Omeroglu ◽  
Erdogan Okur
Keyword(s):  
Magnetic Resonance Imaging ◽  
Mental Retardation ◽  
Magnetic Resonance ◽  
Adult Patient ◽  
Normal Male ◽  
Resonance Imaging ◽  
Upper Lip ◽  
Chromosomal Study ◽  
Median Cleft ◽  
Pericallosal Lipoma

Objective A 17-year-old previously unreported patient with Pai syndrome is described. The boy had median cleft of upper lip, a polypoid skin mass over the columella, a minimal cleft of the upper central incisors, frontal alopecia of the anterior hairline, and bifid nose. Magnetic resonance imaging showed pericallosal lipoma. No mental retardation was present, and a chromosomal study showed normal male 46, XY karyotype.

Articulatory peculiarities of the Baraba-Tatar phoneme о /ʊ̇/ (on MRI data)

2021 ◽  
pp. 191-208
Author(s):  
T. R. Ryzhikova ◽  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Soft Palate ◽  
Full Description ◽  
Resonance Imaging ◽  
Upper Lip ◽  
Acoustic Effect ◽  
Lower Lip ◽  
Vocal System ◽  
Magnetic Resonance Imaging Mri

The paper aims to describe the articulatory traits of the Baraba-Tatar phoneme o /ʊ̇/ by the somatic methods. The method used is magnetic resonance imaging (MRI). Eighteen Barabian tomograms comprising o-type articulation have been described and analyzed according to the technique adopted in the V. M. Nadelyayev’s Laboratory of Experimental-Phonetic Researches (Institute of Philology SB RAS). The text provides only general observations and conclusions, with a full description of all tomograms given in three tables. The experimentalphonetic analysis of the Baraba-Tatar tomograms of the vowel o allowed the author to draw several conclusions. There is a variability of the o-type tunings in Barabian, the most typical being the central-back narrow labialized ejective realization. Though it is very narrow and is phonetically transcribed as /ʊ̇/, it is acoustically perceived as o. While producing the sound o, the oral and pharyngeal cavities become very small, producing the effect of tension. Additional narrowing occurs between the soft palate and the tongue back as well as between the upper teeth and the lower lip, thus preventing the airflow from free release. The lip position is also unusual: instead of protruding forward, the upper lip moves back, tightly covering the upper teeth to produce an interesting acoustic effect. To sum up, further investigation of all vocal system units of Baraba-Tatar is needed to draw ultimate conclusions about the typological belonging of the language under consideration.

Magnetic resonance imaging in the malformative syndromes with mental retardation

1990 ◽  
Vol 21 (1) ◽  
pp. 16-19 ◽  
Author(s):  
O. Gabrielli ◽  
U. Salvolini ◽  
G. V. Coppa ◽  
C. Catassi ◽  
R. Rossi ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Mental Retardation ◽  
Magnetic Resonance ◽  
Resonance Imaging

scholarly journals Use of Dexmedetomidine for Magnetic Resonance Imaging under Sedation in a Pediatric Patient with Phenylketonuria

2020 ◽  
Author(s):  
Kumari Pallavi ◽  
Rajeeb K. Mishra ◽  
Amit Goyal ◽  
Venkatapura J. Ramesh ◽  
Prathamesh M. Patwardhan
Keyword(s):  
Magnetic Resonance Imaging ◽  
Mental Retardation ◽  
Magnetic Resonance ◽  
Surgical Procedures ◽  
Inborn Error ◽  
Phenylalanine Hydroxylase ◽  
Organ Damage ◽  
Resonance Imaging ◽  
Unique Challenge ◽  
Anesthetic Drugs

AbstractPhenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase which results in accumulation of phenylalanine. Patients of PKU presents with seizures, mental retardation, and organ damage and possess a unique challenge to the anesthesiologists when they need anesthetics for diagnostic or surgical procedures. There is limited literature regarding the safety of various anesthetic drugs in PKU patients. None of them reported the use of dexmedetomidine as safer sedative option for such patients. Therefore, we describe the management of such a case posted for magnetic resonance imaging under dexmedetomidine sedation.

Midline Facial Defects with Hypertelorism and Low-Grade Astrocytoma: A Previously Undescribed Association

2006 ◽  
Vol 43 (6) ◽  
pp. 748-751 ◽  
Author(s):  
Silvyo David Araújo Giffoni ◽  
Fernando Cendes ◽  
Marcelo Valente ◽  
Vera Lucia Gil-da-Silva-Lopes
Keyword(s):  
Magnetic Resonance Imaging ◽  
Central Nervous System ◽  
Nervous System ◽  
Magnetic Resonance ◽  
Cleft Lip ◽  
Low Grade ◽  
Resonance Imaging ◽  
Facial Defects ◽  
Median Cleft

We report on a child with midline facial defects with hypertelorism (MFDH), median cleft lip, sphenoidal ventriculocele, partial agenesis of the corpus callosum, and low-grade astrocytoma in the cervicomedullary junction. This combination of findings has not been reported previously. Although this association might be casual, it demonstrates a relationship between disorders of frontonasal process and posterior fossae. It also suggests that individuals with MFDH might require a prospective follow-up with central nervous system magnetic resonance imaging.

scholarly journals Dyke-Davidoff-Masson syndrome - typical imaging features

2016 ◽  
Vol 69 (11-12) ◽  
pp. 373-375 ◽  
Author(s):  
Mladen Bjelan ◽  
Dusko Kozic ◽  
Vesna Njagulj ◽  
Aleksandar Ragaji ◽  
Katarina Koprivsek ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Mental Retardation ◽  
Magnetic Resonance ◽  
Imaging Modality ◽  
Clinical Suspicion ◽  
Imaging Features ◽  
Resonance Imaging ◽  
Left Frontal Lobe ◽  
Left Lateral Ventricle ◽  
Frontal Horn

Introduction. Dyke-Davidoff-Masson syndrome is an uncommon neurological disorder clinically presented with seizures, various degrees of mental retardation, motor weakness and sometimes body asymmetry. Typical neuroimaging features include cerebral hemiatrophy with ipsilateral hyper pneumatization of paranasal sinuses. The purpose of this report was to present a rare cause of seizures revealed by magnetic resonance imaging. Case Report. We report a case of a 17-year-old boy admitted to hospital due to a severe headache. He had been treated because of partial epileptic seizures for six years. Neuropsychological examination revealed mild mental retardation, mild speech and reading difficulties and discrete right-sided hemiparesis. Typical magnetic resonance imaging features confirmed clinical suspicion of Dyke-Davidoff-Masson syndrome, revealing left frontal lobe atrophy, with consecutive widening of the left lateral ventricle frontal horn, thickening of the near?by frontal squama and hypertrophy of left frontal sinus. Conclusion. Magnetic resonance imaging is the key imaging modality that confirms clinical suspicion of Dyke-Davidoff-Masson syndrome based on a proper physical and neurological examination.

Minor cerebral alterations observed by magnetic resonance imaging in syndromic children with mental retardation

1998 ◽  
Vol 27 (2) ◽  
pp. 139-144 ◽  
Author(s):  
Orazio Gabrielli ◽  
Giovanni V Coppa ◽  
Marialuigia Manzoni ◽  
Ines Carloni ◽  
Ahmad Kantar ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Mental Retardation ◽  
Magnetic Resonance ◽  
Resonance Imaging
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