نتایج جستجو برای: pierre robin syndrome

تعداد نتایج: 638030  

Journal: :The Journal of antimicrobial chemotherapy 2008
Neil Woodford

Multilocus sequence typing gives us unparalleled insights into the population biology of bacterial species, including those that cause healthcare-associated and/or community-acquired infections. For many of these species, we now recognize the existence of internationally prevalent clones, which are often resistant to multiple antibiotics.

Journal: :International journal of clinical and experimental medicine 2015
Shuang Zhang Mingliang Yi

We present a new strategy method of combining use of Airtraq(®) and fiberoptic bronchoscope (FOB) for tracheal intubation in 3-year-old child with Pierre-Robin sequence.

Journal: :Turkish journal of anaesthesiology and reanimation 2014
Alper Kılıçaslan Atilla Erol Ahmet Topal Tayfun Et Şeref Otelcioğlu

Airway management of children with congenital craniofacial anomalies is a challenge for paediatric anaesthesiologists. We do not have any video-assisted airway device in our department for difficult paediatric intubations. We decided to attach a regular fiberoptic (outer diameter; 3.7 mm, Karl Storz, Germany) scope to a conventional Macintosh Laryngoscope (size 1). We describe two cases of Pier...

Journal: :Developmental medicine and child neurology 1958
J McKenzie

Although disfiguring abnormalities of the face have been a problem to the plastic surgeon for many years and the accompanying embarrassment and morbidity have equally exercised the ingenuity of the psychiatrist, there is yet neither satisfactory treatment nor an adequate mask to shield the sufferer. Accordingly, the search for the cause and possible means of prevention has been intensively purs...

2017
Yongjia Yang Jianying Yuan Xu Yao Rong Zhang Hui Yang Rui Zhao Jihong Guo Ke Jin Haibo Mei Yongqi Luo Liu Zhao Ming Tu Yimin Zhu

BACKGROUND We investigated a large family with Pierre Robin sequence (PRS). AIM OF THE STUDY This study aims to determine the genetic cause of PRS. RESULTS The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and G...

Journal: :British journal of anaesthesia 1996
D J Hatch

Airway management in cleft lip and palate surgery Cleft lip and palate are the most common of the craniofacial anomalies, with an incidence of approximately 1 in 800 live births. Twenty-five percent of cases of cleft lip are bilateral, and 85 % of these are associated with cleft palate. In recent years there has been a move towards earlier surgical repair of both cleft lip and palate, with clef...

Journal: :Pediatrics 1985
F Cozzi A Pierro

The clinical and physiologic features of 28 infants with Pierre Robin syndrome and those of 20 infants with various types of nasal obstruction were reviewed to determine whether different causes of upper airway obstructure may lead to a common syndrome. The patients had no significant differences in distribution of main clinical manifestations. Their features included cyanosis with respiratory ...

Journal: :American journal of human genetics 2014
Nadja Ehmke Almuth Caliebe Rainer Koenig Sarina G Kant Zornitza Stark Valérie Cormier-Daire Dagmar Wieczorek Gabriele Gillessen-Kaesbach Kirstin Hoff Amit Kawalia Holger Thiele Janine Altmüller Björn Fischer-Zirnsak Alexej Knaus Na Zhu Verena Heinrich Celine Huber Izabela Harabula Malte Spielmann Denise Horn Uwe Kornak Jochen Hecht Peter M Krawitz Peter Nürnberg Reiner Siebert Hermann Manzke Stefan Mundlos

Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), ...

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