نتایج جستجو برای: craniofacial abnormalities

تعداد نتایج: 108607  

Journal: :Biomedical Journal of Scientific and Technical Research 2023

Cardiofaciocutaneous syndrome (CFC) type 4 is a rare, phenotypically diverse, autosomal dominant, multiple congenital anomaly disorder, that characterized by distinctive set of dysmorphic craniofacial features, heart disease, and cutaneous abnormalities.

Journal: :Medical ultrasonography 2013
Mirela Ritivoiu Florin Brezan Ioana Codreanu Mircea Stamate Ioana Anca

Holoprosencephaly (HPE) is a rare anomaly of the brain consisting of an absent or incomplete separation of the forebrain in early gestation. We present 2 variants of HPE, diagnosed by ultrasound, which combined with the clinical features led to HPE subtypes differentiation.

Journal: :Legal medicine 2015
Maria Isabel Huete Oscar Ibáñez Caroline Wilkinson Tzipi Kahana

In this manuscript, the past, present and future of the identification of human remains based on craniofacial superimposition is reviewed. An analysis of the different technological approaches developed over time is offered in conjunction with a new classification based on the technology implemented throughout the diverse phases of the process. The state of the art of the technique, in the acad...

Journal: :journal of dentistry, tehran university of medical sciences 0
rajeev pandey school of dental sciences sharda university rajat gupta nitin bhagat aviral verma

median cleft is the midline cleft of the lip. it develops due to incomplete or failed fusion of the median nasal prominence. it can present with minimal deformities such as involvement of the vermilion border, or complex clefting of the midline structures and brain. median clefts are broadly classified as true and false clefts. this case report describes a rare case of median cleft of the upper...

ژورنال: Anatomical Sciences Journal 2004
Jalali, Mahdi, Nik Ravesh, Mohammad Reza,

Purpose: we previously reported that maternal valproic acid (VA) administration during rat pregnancy produced CNS defect ranely, syringomyelia. Furthermore, it seems that administration of valproic acid during critical period of pregnancy may affect on development of other embryonic skeletal portion such as craniofacial region. The goal of our study was to determine whether there is a relations...

Journal: :Science 2005
May Tassabehji Peter Hammond Annette Karmiloff-Smith Pamela Thompson Snorri S Thorgeirsson Marian E Durkin Nicholas C Popescu Timothy Hutton Kay Metcalfe Agnes Rucka Helen Stewart Andrew P Read Mark Maconochie Dian Donnai

Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial development is incomplete. We show that GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development, and we implicate another member of the TFII-I transcription factor family, GTF2I, in both aspects. Gtf2ird1-nul...

2012
Tamyne Ferreira Duarte de Moraes Camila de Cássia Macedo Mariza Ribeiro Feniman

1) Master of Science. Resident Speech Therapist for Multidisciplinary Residency Program of Rehabilitation Craniofacial Anomalies Hospital of Universidade de São Paulo /Sao Paulo University. 2) Master of Rehabilitation Science.Student for Post-Graduation Program of Rehabilitation Craniofacial Anomalies Hospital of Universidade de São Paulo/Sao Paulo University. 3) Entitled Professor. Entitled Pr...

Journal: :International journal of medical anesthesiology 2023

The airway management of syndromic pediatric patients is an ongoing challenge for the anesthesiologist. craniofacial abnormalities and multiple system anomalies in Edward syndrome children require special consideration during perioperative period. We hereby report successful 8-year-old male child with Edward’s posted laparoscopic orchidopexy.

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