نتایج جستجو برای: pierre robin syndrome
تعداد نتایج: 638030 فیلتر نتایج به سال:
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.
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.
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...
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...
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...
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...
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 ...
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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