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| http://dx.doi.org/10.5935/0103-507X.20130014 | DOI Listing |
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Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.
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Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Kleefstra syndrome (KLEFS) is a genetic neurodevelopmental disorder caused by haploinsufficiency of EHMT1. The full spectrum of clinical features and genotype-phenotype correlations is currently not fully understood. We performed a retrospective chart review of patients with KLEFS evaluated at the Boston Children's Hospital Kleefstra Clinic.
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Abdominal pain is a common pediatric complaint in the emergency department and other clinical settings. While most causes are benign, dangerous and time-sensitive conditions may be present. Point-of-care ultrasound (POCUS) is a diagnostic modality that can help more thoroughly explore the differential diagnosis at a relatively low cost, without exposure to ionizing radiation, and in a timely manner.
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Gastrointestinal (GI) aspergillosis is a rare and fatal complication in immunocompromised patients. We present the case of a 72-year-old patient with unexplained recurrent pancytopenia who presented with fever, constipation, abdominal distention, and jaundice. Imaging revealed a mass in the ileocecal junction, and biopsy revealed Aspergillus hyphae infiltrating the bowel wall.
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Gazi University Faculty of Medicine, Department of Anaesthesiology and Reanimation, Ankara, Turkey.
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