Jordan Prutkin, Joel Moss Remedica, 2002 - 257 من الصفحات 0 مراجعات Our understanding of the relationship between genetics and pulmonary disorders is still evolving. [books.google.com]

Ptosis, telecanthus, hypertrichosis, restrictive lung disease, and mitral valve prolapse may also be part of the disorder. [disorders.eyes.arizona.edu]

Alopecia, abnormal dentition and coarse brittle hair may be present. Cognitive deficits and personality disorders are often a feature. Brain imaging may show calcification of the basal ganglia. [disorders.eyes.arizona.edu]

Chronically hypoparathyroid patients manifest with muscle cramps, pseudopapilledema, extrapyramidal signs, mental retardation and personality disturbances, as well as cataracts, dry rough skin, coarse brittle hair, alopecia and abnormal dentition(l). [indianpediatrics.net]

The 2002 FDA approval of the recombinant form of parathyroid hormone 1-34 (Forteo , Teriparatide) for the treatment of severe osteoporosis has allowed this therapy to be used off-label for treatment of hypoparathyroidism both in the US and in Europe. [rarediseases.org]

X-linked recessive hypoparathyroidism is caused by mutations of a gene located on the long arm (q) of the X chromosome (Xq26-q27). This gene plays a critical role in the development of the parathyroid glands. [rarediseases.org]

We found that in none of the 23 affected individuals was there absence of the parathyroid hormone gene or abnormal restriction patterns to suggest recognizable deletions, insertions, or rearrangements. [ncbi.nlm.nih.gov]

These results indicate that four members of the family were affected, suggesting autosomal dominant inheritance. Brain CT revealed calcification of basal ganglia in the proband, her father and a younger sister, but not in her younger brother. [jstage.jst.go.jp]

The dental findings in this patient are suggestive of reduced bone reparative capacity due to low serum Ca levels. [jisponline.com]

THYROID FUNCTION TEST 47 THYROID DISORDERS OF INFANCY 462 P A RT IV CALCIUM AND BONE METABOLISM 473 MORPHOLOGY OF THE PARATHYROID 51 PARATHYROID HORMONE 497 PHYSIOLOGY OF CALCIUM 52 PARATHYROID HORMONERELATED 512 CLINICAL APPLICATION OF BONE MINERAL [books.google.com]

[…] very few cases, severe activating mutations of the CaSR cause a phenotype resembling the salt-wasting Bartter syndrome (also referred to as Bartter syndrome subtype V), characterized by hypocalcemia, hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia [iofbonehealth.org]

[…] severe activating mutations of the CaSR cause a phenotype resembling the salt-wasting Bartter syndrome (also referred to as Bartter syndrome subtype V), characterized by hypocalcemia, hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia [iofbonehealth.org]