Search results for "Pierre Robin syndrome"
showing 4 items of 4 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.
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.
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…