We report a case of progressive osseous heteroplasia in a female infant who had progressive ossification of the skin and deep connective tissues. Isolated dermal ossification is present in her father and younger sister suggesting an autosomal dominant mode of inheritance with variable expressivity or possible somatic mosaicism. This report of a family with progressive osseous heteroplasia contributes to the understanding of this uncommon genetic disorder, which must be distinguished from fibrodysplasia ossificans progressiva and Albright’s hereditary osteodystrophy. The paucity of familial cases of progressive osseous heteroplasia currently limits the use of a genome-wide
The aim of this study is to develop a core set of outcome domains that should be considered and reported in all future trials of childhood limb fractures. A four-phase study was conducted to agree a set of core outcome domains. Identification of candidate outcome domains were identified through systematic review of trials, and outcome domains relevant to families were identified through semi-structured interviews with 20 families (parent-child pairing or group). Outcome domains were prioritized using an international three-round Delphi survey with 205 panellists and then condensed into a core outcome set through a consensus workshop with 30 stakeholders.Aims
Methods
The aim of this study was to establish the incidence of developmental dysplasia of the hip (DDH) diagnosed after one-year of age in England, stratified by age, gender, year, and region of diagnosis. A descriptive observational study was performed by linking primary and secondary care information from two independent national databases of routinely collected data: the United Kingdom Clinical Practice Research Datalink and Hospital Episode Statistics. The study examined all children from 1 January 1990 to 1 January 2016 who had a new first diagnostic code for DDH aged between one and eight years old.Aims
Patients and Methods
It is well established that there is a strong association between
Perthes’ disease and worsening socioeconomic deprivation. It has
been suggested that the primary determinant driving this association
is exposure to tobacco smoke. This study aimed to examine this hypothesis. A hospital case-control study (n = 149/146) examined the association
between tobacco smoke exposure and Perthes’ disease, adjusting for
area-level socioeconomic deprivation. Tobacco smoke exposure was
assessed by parental questionnaire of smoking habits during pregnancy,
and by quantitative assay of current exposure using the urinary
cotinine-creatinine ratio, which is a widely used and validated
measure of tobacco smoke exposure.Aims
Patients and Methods
