An unusual familial case of three sibs with a partial duplication of distal Xp sequences is described. The proband, an 18 year old boy, showed mental retardation, severe dysmorphic features, hypogonadotrophic hypogonadism (HHG), and hypoplastic external genitalia. His karyotype was 46,Y,inv dup(X)(p22.1-->p22.32). The proband has two sisters each with the same inv dup(Xp) chromosome. Both sisters presented with short stature but were otherwise phenotypically normal. The abnormal X chromosome was inactive in the majority of cells examined. Southern blot dosage analysis indicated a duplication of distal Xp sequences. The proximal breakpoint is located between DXS28 and DXS41, and is therefore at least 2 Mb distal to the DSS locus. The relationship between the phenotype and the Xp duplication is discussed.

No abstract

Objectives: In studies that included children diagnosed with toddler's fractures (TFs), we determined the fracture-related adverse outcomes in those treated with immobilization versus no immobilization. Furthermore, we compared health services utilization between these 2 immobilization strategies.Methods: A search was done on Ovid MEDLINE(R), Embase Classic + Embase, and Cochrane Central Register of Controlled Trials along with reference lists as conference proceedings and abstracts. No language or publication status or location restrictions were used. All study steps, including the methodological quality assessment, were conducted independently and in duplicate by 2 authors.Results: Of the 490 references identified, 4 retrospective studies of low quality met inclusion criteria and collectively included 355 study participants. With respect to fracture-related adverse outcomes, there was no risk difference [0; 95% confidence interval (CI), −0.09 to 0.09] between the immobilization and no immobilization treatment strategies. Furthermore, in the immobilization versus no immobilization groups, there was a higher mean difference in the number of radiographs (0.69; 95% CI, 0.15-1.23) and scheduled outpatient orthopedic visits (0.96; 95% CI, 0.24-1.68), but a decreased relative risk (0.41; 95% CI, 0.05-3.19) of repeat emergency department visits. No data were reported on patient pain or caregiver satisfaction. Conclusions:In children with TF, this study suggests that no immobilization may be a safe alternative to immobilization for this minor fracture; however, high-quality evidence is needed to optimally inform clinical decision making. Future work should include validated measures of patient recovery, pain, and caregiver perspectives when comparing treatment strategies for this injury.

Dehydration is frequently associated with fever in infants younger than 8 days of age seen in a PED. Early identification of dehydration may be useful in limiting the aggressive intervention in some of these infants.