36 research outputs found
Diagnosis and management in Rubinstein-Taybi syndrome:first international consensus statement
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.</p
Diagnosis and management in Rubinstein-Taybi syndrome:first international consensus statement
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.</p
A newborn with unusual morphology: some practical aspects
SummaryNewborns with an unusual phenotype with or without malformations are common in the practice of every paediatrician. Determining whether the phenotype is a variation of normal or should be considered abnormal and, if the latter, also finding the cause can be extremely difficult. Here the main steps that should be followed in the diagnostic procedures are discussed. A careful family history and detailed physical examination remain the hallmarks of the investigations in all newborns. Very frequently clinical photographs will facilitate discussing patients with colleagues. Additional investigations usually include radiological examinations of all body parts that show abnormalities, and screening of the heart, kidneys, eyes and hearing. The studies with the highest yield are cytogenetic analyses which nowadays often involve microarray assays. In the near future, total exome sequencing will be available for diagnostic purposes which will have a major impact on the diagnostic process
Prevalence of Symptomatic Intracranial Aneurysm and Ischaemic Stroke in Pseudoxanthoma Elasticum
Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome.
International audienceWe describe two newborn brothers with a pattern of malformation characterized by the persistence of Müllerian duct derivatives, intestinal lymphangiectasia, hypertrophied alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary lymphangiectasia. The syndrome was first delineated by Urioste and co-workers [1993: Am J Med Genet 47:494-503]. These cases confirm the existence of a definite and distinct entity