Seminars in Fetal & Neonatal Medicine
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#2Christian F. PoetsH-Index: 66
Last. Véronique Abadie (University of Paris)H-Index: 16
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Abstract null null Robin sequence (RS) is a heterogeneous congenital condition characterized by retrognathia, glossoptosis, upper airway obstruction, and very often, posterior U-shape cleft palate. Half the children with RS have an underlying syndrome, either identified (syndromic RS) or not (RS+). Long-term intellectual developmental outcome first depends on the underlying diagnosis and is often poor in syndromic cases. On the contrary, the rare studies that analysed the long-term developmental...
#1Mark A. Green (Harvard University)
#2Cory M. Resnick (Harvard University)H-Index: 14
Approximately 5% of children experience difficulty with the complex coordination of sucking, swallowing and breathing required for feeding. Infants with craniofacial malformations may have anatomic and neurologic contributions to feeding problems. Examples include cleft lip and/or palate, micrognathia, maxillary hypoplasia, and pharyngeal dysfunction. Interventions may facilitate weight gain and avoid failure-to-thrive in these infants. An interdisciplinary approach to address feeding challenges...
Abstract null null Facial clefts and Robin sequence (RS) share the timing of the diagnosis during the course of pregnancy, their association with genetic diseases and the subsequent management following the initial diagnosis. If a suspicion of a facial cleft or RS is made, a detailed anatomical examination of the fetus should be carried out to identify further anomalies. This may also involve genetic testing including a microarray or an exome analysis. Interdisciplinary counseling, including pre...
#1Cornelia Wiechers (University of Tübingen)H-Index: 9
#2Jörg Arand (University of Tübingen)H-Index: 8
Last. Christian F. Poets (University of Tübingen)H-Index: 66
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Abstract null null The Tubingen therapy concept centers on an individual orthodontic palatal plate with a spur-like velar extension (Tubingen Palatal or Epiglottic Baton Plate, TPP or PEBP) and intensive feeding training. It was primarily developed for infants with Robin sequence, but has since also be used successfully in infants with other craniofacial malformations. TPP improves not only upper airway obstruction, but also feeding problems, thriving, mandibular growth and was associated with i...
#1Denise ManicaH-Index: 8
#2Claudia Schweiger (UFRGS: Universidade Federal do Rio Grande do Sul)H-Index: 11
Abstract null null Objective null To study the role of upper airway endoscopy (UAE) in craniofacial malformations in all different management approaches described in the literature. null null null Methods null A narrative review was performed, based on a search in pubmed. null null null Results null UAE use was reviewed over five domains: 1) Diagnosis of glossoptosis and endoscopic classification: drug-induced sleep endoscopy is recommended to graduate tongue base obstruction; there is still no ...
#1Francois Abel (Great Ormond Street Hospital for Children NHS Foundation Trust)H-Index: 7
#2C Wallis (Great Ormond Street Hospital for Children NHS Foundation Trust)H-Index: 13
Abstract null null There are a wide range of surgical and maxillofacial options to alleviate upper airway obstruction in children with craniofacial disorders. The nasopharyngeal prong (NPP) is a simple idea where the airway obstruction arising from the posteriorly placed tongue secondary to a small mandible can be overcome quickly and without resorting to more invasive surgical procedures. null The role of the NPP is of particular interest in Robin sequence (RS). RS describes a congenital anomal...
#1Karen A. Waters (Children's Hospital at Westmead)H-Index: 34
Abstract null null Evaluation and management of airway obstruction in prone position were reviewed from studies in infants with micrognathia and/or cleft palate, using polysomnography (PSG) or similar measures, and comparing prone against other positions. Most studies identified were case series from specialist referral centres. Airway obstruction appears more severe on PSG than clinical assessment, but there is no consensus for PSG definitions of mild, moderate or severe airway obstruction. Inf...
Abstract null null Craniofacial syndromes are a complex cluster of genetic conditions characterized by embryonic perturbations in the developmental trajectory of the upper airway and related structures. The presence of reduced airway size and maladaptive neuromuscular responses, particularly during sleep, leads to significant alterations in sleep architecture and overall detrimental gas exchange abnormalities that can be life-threatening. The common need for multi-stage therapeutic interventions...
#1Christian F. Poets (University of Tübingen)H-Index: 66
#2Véronique Abadie (University of Paris)H-Index: 16
Last. Cornelia Wiechers (University of Tübingen)H-Index: 9
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Abstract null null Treatment of infants with craniofacial malformations, e.g. Robin sequence, is characterized by considerable heterogeneity and a lack of randomized trials to identify an optimal approach. We propose to establish an international register using a common minimal dataset that will better allow for a comparison between key determinants and outcomes in these patients. In infants, this should include an assessment of mandibular micrognathia, glossoptosis, upper airway obstruction, we...
#1Ariane Schmetz (HHU: University of Düsseldorf)
#2Jeanne Amiel (Paris V: Paris Descartes University)H-Index: 85
Last. Dagmar Wieczorek (HHU: University of Düsseldorf)H-Index: 68
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The field of craniofacial malformations is comprehensive and does not allow to discuss all craniofacial malformations which have been described as single entities. Many of the syndromes with craniofacial malformations are ultrarare. In this review we have chosen craniofacial malformation syndromes which are of relevance for the pediatrician, especially neonatologist: different types of craniosynostoses, oculo-auriculo-vertebral spectrum, Pierre Robin sequence and Treacher Collins syndrome. These...
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