To cite: Kumar R, Balachandran K, Kamalanathan S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014208116 DESCRIPTION A 55-year-old man presented with short stature, progressive bilateral leg deformity (figure 1) and loss of all teeth since childhood. Similar bony deformities were present in his mother, elder brother and both his daughters. His only son ...

Bill Anderson Escobar et al.’s discussion of medically unexplained physical symptoms is useful, and could trigger a renewal of how the medical profession works [1]. We are in transition at the present, and what we have been trained for is less and less relevant. This disjunction between our training and practise has given rise to a generation of unhappy doctors. The traditional “doctor” dealt w...

Acinetobacter baumannii is an opportunistic bacterial pathogen primarily associated with hospital-acquired infections. The recent increase in incidence, largely associated with infected combat troops returning from conflict zones, coupled with a dramatic increase in the incidence of multidrug-resistant (MDR) strains, has significantly raised the profile of this emerging opportunistic pathogen. ...

BACKGROUND Drug-resistant tuberculosis (DR-TB) is a major public threat in countries of the former Soviet Union, including Georgia. There are few studies of pediatric DR-TB cases, especially at a national level. OBJECTIVE To report the characteristics and treatment outcomes of pediatric multidrug-resistant TB (MDR-TB) cases in Georgia. METHODS We extracted data on all pediatric (age <16 yea...

BACKGROUND Labyrinthine Aplasia, Microtia and Microdontia (LAMM) syndrome is characterized by the complete absence of inner ear structures (Michel aplasia), microtia and microdontia. Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate. CASE CHARACTERISTICS 13-year-old Indian girl presented with deafness since infancy and progressive wrist wide...

Secondary hyperparathyroidism is an unusual complication of hypophosphatemic rickets during the treatment. As there is growing evidence that a high phosphate diet may induce secondary hyperparathyroidism and even tertiary hyperparathyroidism caused by hyperplasia of the parathyroid glands. Serum calcium, phosphate and also parathyroid hormone should be measured regularly to catch the early diag...

X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) have been found to be associated with XLH. Here, we report a 16-year-old female patien...

Plasma 1,25-dihydroxyvitamin D levels are elevated in early pregnancy and continue to increase throughout pregnancy. They remain elevated postpartum in lactating women. The elevated levels probably represent a physiological response to increased calcium requirements.

Staphylococcus pseudintermedius is an important opportunistic pathogen of companion animals, especially dogs. Since 2006 there has been a significant emergence of methicillin-resistant S. pseudintermedius (MRSP) mainly due to clonal spread. This article reviews research on MRSP with a focus on occurrence, methods used for identification, risk factors for colonization and infection, zoonotic pot...