Moreover, the patient developed a precocious puberty at the age of 9 years. When we saw the patient 40 years after the diagnosis had been made, phosphaturia had returned to normal. [ncbi.nlm.nih.gov]

The length of the atlas correlated positively with mandibular prognathism (P 0.042). FUS correlated positively with the frontal and parietal thickness (P 0.034 and P 0.003, respectively). [ncbi.nlm.nih.gov]

Information regarding medical histories, dental histories, intraoral photos, probing depths (PD), calculated clinical attachment loss (AL), the presence of gingival recession, bleeding on probing, and full-mouth radiographic surveys were acquired. [ncbi.nlm.nih.gov]

Subsequently, he developed nephrocalcinosis, heart valve calcifications, severe calcific coronary artery disease, heart block, and congestive heart failure. [ncbi.nlm.nih.gov]

Both children had evidence of progressive hearing loss requiring the use of hearing aids. [ncbi.nlm.nih.gov]

A patient with ENS with right-sided serpiginous skin lesions, generalized weakness, and diffuse osteopenia associated with hypophosphatemic rickets is described. Medical management was enough to correct the clinical picture. [ncbi.nlm.nih.gov]

This syndrome involves rickets with bone deformities in childhood and osteomalacia, osteoporosis, articular and para-articular pain, and fatigue in adulthood. [ncbi.nlm.nih.gov]

Hypophosphatemic rickets AR 20 68 FAH Tyrosinemia AR 39 101 FGF23 Tumoral calcinosis, hyperphosphatemic, Hypophosphatemic rickets AD/AR 10 16 KL Tumoral calcinosis, hyperphosphatemic AR 1 10 PHEX Hypophosphatemic rickets XL 262 428 SLC34A1 Nephrolithiasis/osteoporosis [blueprintgenetics.com]

Besides congenital cataracts, renal tubular dysfunction and psychomotor retardation, the patient had also suffered from profound failure to thrive, growth hormone deficiency, severe osteoporosis with hypophosphatemic rickets, and progressive renal dysfunction [ncbi.nlm.nih.gov]

Magnetic resonance imaging revealed a calcified intervertebral disc, as well as a posterior osteophytic bar causing marked cervical cord compression at C6/C7. [ncbi.nlm.nih.gov]

The length of the atlas correlated positively with mandibular prognathism (P 0.042). FUS correlated positively with the frontal and parietal thickness (P 0.034 and P 0.003, respectively). [ncbi.nlm.nih.gov]

The operative method was gradual correction and lengthening using distraction osteogenesis by Ilizarov external fixator or Heidelberg external fixator. [ncbi.nlm.nih.gov]

CASE OUTLINE: A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and disproportionate short stature (79 cm, P5; -1,85 SD). [ncbi.nlm.nih.gov]

gait, muscle pain and weakness. [ultragenyx.com]

Nephrocalcinosis and erythrocytosis did not disappear even after recovery of renal function. [ncbi.nlm.nih.gov]

Author information 1 Molecular Pathology Division, The Sarah Network of Rehabilitation Hospitals, Brasilia, Brazil. [email protected] Abstract Few studies describe karyotypic abnormalities in simple bone cysts. [ncbi.nlm.nih.gov]