The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from

Klavar Card-box

Eindverslag van het bachelorproject voor stichting Klavarskribo.Software TechnologyElectrical Engineering, Mathematics and Computer Scienc

Letter to the editor in reponse to Louboutin, Wascher, and Neyret in management of patellar problems in skeletally mature patients with nail-patella syndrome. KSSTA 2017 Oct;25(10):3012-3016. https://doi.org/10.1007/s00167-016-4044-y. Epub 2016 Feb 12

Item does not contain fulltex

Septic monoarthritis with isolation of P dagmatis as a monoculture in the stifle joint of a dog

A seven-month-old male cane corso was presented to our emergency clinic, with severe left hind lameness. The combination of history, physical examination, radiographs and cytology of the left stifle raised a suspicion of a septic monoarthritis. Bacteriology of the synovia confirmed an infection with Pasteurella dagmatis. Pasteurella species are frequently associated with skin disease and often isolated from dog bite wounds in humans. Isolation of P dagmatis only incidentally occurs and its frequency might be underestimated due to laboratory misidentification. Its pathogenicity remains unknown and is presumed to be equal to other Pasteurella species. However, in humans, this organism is associated with more serious disease, which might potentially also be the case in our patient. To the author’s knowledge, this is the first case report of a monoculture of P dagmatis isolated from the joint of a dog

Septic monoarthritis with isolation of P dagmatis as a monoculture in the stifle joint of a dog

A seven-month-old male cane corso was presented to our emergency clinic, with severe left hind lameness. The combination of history, physical examination, radiographs and cytology of the left stifle raised a suspicion of a septic monoarthritis. Bacteriology of the synovia confirmed an infection with Pasteurella dagmatis. Pasteurella species are frequently associated with skin disease and often isolated from dog bite wounds in humans. Isolation of P dagmatis only incidentally occurs and its frequency might be underestimated due to laboratory misidentification. Its pathogenicity remains unknown and is presumed to be equal to other Pasteurella species. However, in humans, this organism is associated with more serious disease, which might potentially also be the case in our patient. To the author’s knowledge, this is the first case report of a monoculture of P dagmatis isolated from the joint of a dog

No justification of routine screening for 22q11 deletions in patients with overt cleft palate.

The velo-cardio-facial syndrome (VCFS), caused by a submicroscopic deletion of chromosome 22q11, is the most common syndrome that has palatal anomalies as a major feature. A possible strategy for early detection of VCFS is routine screening for 22q11 deletions in all infants with cleft palate (CP). The purpose of this study was to evaluate whether this strategy is preferable to testing on clinical suspicion. At the Nijmegen Cleft Palate Craniofacial Center, 58 new patients with overt CP were routinely tested, using fluorescence in situ hybridization (FISH), for a 22q11 deletion. One deletion was identified in a newborn girl with an overt CP who was clinically not suspected of having VCFS. Based on this study (n = 45) and the literature (n = 54), the prevalence of 22q11 deletions among children with CP, but without any other symptoms of VCFS, is estimated to be one in 99. We take the view that this figure is rather low and that early discovery will rarely have significant clinical or genetic consequences. Because CP patients remain under medical attention, almost all of the infants with isolated CP and VCFS will be recognized as having the syndrome at a later age when additional features have developed. Therefore, we conclude that routine FISH testing for 22q11 deletions in infants with overt CP is not indicated, provided clinical follow-up is guaranteed