ObjectiveWe aim to formulate evidence-based recommendations to assist physicians decision-making in the assessment and management of children younger than 16 years presenting to the emergency department (ED) following a blunt head trauma with no suspicion of non-accidental injury.MethodsThese guidelines were commissioned by the Italian Society of Pediatric Emergency Medicine and include a systematic review and analysis of the literature published since 2005. Physicians with expertise and experience in the fields of pediatrics, pediatric emergency medicine, pediatric intensive care, neurosurgery and neuroradiology, as well as an experienced pediatric nurse and a parent representative were the components of the guidelines working group.Areas of direct interest included 1) initial assessment and stabilization in the ED, 2) diagnosis of clinically important traumatic brain injury in the ED, 3) management and disposition in the ED. The guidelines do not provide specific guidance on the identification and management of possible associated cervical spine injuries. Other exclusions are noted in the full text.ConclusionsRecommendations to guide physicians practice when assessing children presenting to the ED following blunt head trauma are reported in both summary and extensive format in the guideline document.
We report on a 13 1/2-year-old patient with Kabuki make-up syndrome and complete idiopathic precocious puberty manifested at 7 1/2 years. In addition to the other specific clinical signs, she showed hypodontia and lower lip pits, as typically seen in the Van der Woude syndrome. The significance of lower lip pits in the Kabuki make-up syndrome is discussed.
We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma-Naumoff, Beemer, and Jeune. It seems possible that the different types of SR(P) syndromes, rather than being distinct conditions, are part of a large disease spectrum. The frequent overlap between orofaciodigital syndromes and SR(P) syndromes may be interpreted as the outcome of deletions of different size within the same chromosome region.
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