Search results for "Pierre Robin"
showing 8 items of 8 documents
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals
2020
Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the recurrent heterozygous missense variant NM_006494.2:c.266A>G; p.(Tyr89Cys) in ERF on chromosome 19q13.2, encoding the ETS2 repressor factor (ERF) protein. The pathomechanism of Chitayat syndrome is unknown. To date, seven individuals with Chitayat syndrome and the recurrent pathogenic ERF variant have been reported in the literature. Here, we describe six additional individuals, among them only one presenting with a history of assisted ventil…
A case of femoral-facial syndrome in a patient with autism spectrum disorders.
2011
The Femoral hypoplasia - unusual facies syndrome (FHUF) or Femoral - facial syndrome (FFS) was at first described in 1975. Up to now about 60 cases have been reported. According to our knowledge only 4 cases have had congenital central nervous system's malformations, furthermore the main stages of psychomotor development are almost always reported as normal or slightly altered in early childhood. We describe the first case of autism spectrum disorders (ASD) in a patient with FFS, emphasizing that this rare association could be one of many unrecognized underlying features.
SEMI-AUTOMATIC VOLUMETRIC SEGMENTATION OF THE UPPER AIRWAYS IN PATIENTS WITH PIERRE ROBIN SEQUENCE
2014
Pierre Robin malformation is a rare craniofacial dysmorphism whose pathogenesis is multifactorial. Although there is some agreement in non-invasive treatment in less severe cases, the dispute is still open on cases with severe respiratory impairment. We present a semi-automatic novel diagnostic tool for calculating upper airway volume, in order to eventually address surgery in patients with Pierre Robin Sequence (PRS). Multidetector CT datasets of two patients and two controls were tested to assess the proposed method for ROI segmentation, upper airway volume computation and three-dimensional reconstructions. The experimental results show an irregular pattern and a severely reduced cross-s…
An edge-driven 3D region-growing approach for upper airway morphology and volume evaluation in patients with Pierre Robin sequence
2015
Abstract: Pierre Robin sequence (PRS) is a pathological condition responsible for a sequence of clinical events, such as breathing and feeding difficulties, that must be addressed to give the patient at least a chance to survive. By using medical imaging techniques, in a non-intrusive way, the surgeon has the opportunity to obtain 3D views, reconstruction of the regions of interest (ROIs), useful to increase understanding of the PRS patient’s condition. In this paper, a semi-automatic approach for segmentation of the upper airways is proposed. The implemented approach uses an edge-driven 3D region-growing algorithm to segment ROIs and 3D volume-rendering technique to reconstruct the 3D mode…
APPLICATION OF AN AUTOMATIC COMPUTERIZED ALGORITHM FOR THE ANALYSIS OF UPPER AIRWAYS REDUCTION IN PATIENTS WITH PIERRE ROBIN SEQUENCE STUDIED BY MDCT
2010
Fisioterapia elettromiograficamente assistita nella sindrome di Pierre Robin
2008
Sindrome di pierre-robin trattata con fisioterapia elettromiograficamente assistita: case report
2009
Pierre Robin syndrome is characterized by the triad: micrognathia, cleft palate and glossoptosis. This syndrome, which often undermines several organs and systems, is treated with a multidisciplinary approach that involves several specialists. The AA. present a case of Pierre Robin syndrome in neuromuscular rehabilitation by physiotherapy EMG-assisted. PMID:19445280[PubMed - indexed for MEDLINE]
The ultra-thin bronchoscope in management of the difficult paediatric airway
1987
The use of an ultra-thin flexible fiberoptic bronchoscope with a single lumen diameter of 2.7 mm at the distal tip to assist intubation of paediatric patients with a difficult airway is reported. Two patients (ages 30 months and 18 months) with mandibular hypoplasia and one patient (three months) with the Pierre-Robin syndrome are reported. In each case two fiberoptic bronchoscopes were used. The first allowed introduction of topical local anaesthetic while the second and smaller one was used for tube placement.