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Jaw tumor syndrome hyperparathyroidism and hypothyroidism – Hyperparathyroidism-jaw tumor syndrome

Moreover, they had also distinctive histological features from the childhood form, such as a low number of mitoses, lack of necrosis and hemorrhages, large mesenchymal components, and the presence of cysts [ 87 ]. Sore in the lining of gastrointestinal tract.

William Murphy
Thursday, August 18, 2016
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  • Hu, T.

  • Waguespack, N. Law, C.

International Journal of Endocrinology

This protein is found throughout the body and is likely involved in gene transcription, which is the first step in protein production. Lines et al. Help with Travel Costs. Click on the link to view a sample search on this topic.

If you do not want your question posted, please let us know. These glands regulate the body's use of calcium, so overactivity can lead to high calcium levels in the blood hypercalcemia. The patient from Fig. J Med Genet.

Moreover, CDC73 mutation carriers should be also periodically screened for primary hyperparathyroidism and the other associated tumors. Noncancerous fatty lump. Rozenblatt-Rosen, C. Dias, B.

Description

Hausmann, and K. Parfitt, M. Macchi, L.

  • Nguyen Thanh et al.

  • From Genetics Home Reference. Individuals with evidence of a uterine tumor should be managed by a gynecologist on a case-by-case basis.

  • Richards, and S.

  • Search Menu. Rich, S.

For example, tumors of the uterus occur in about 75 percent of women with this condition. Guarnieri, M. Keywords: Hyperparathyroidism; Jaw tumor. Newey, M. Nguyen Thanh et al.

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Although benign, ossifying fibroma can disrupt normal dentition and impair breathing, causing functional and cosmetic symptoms. El Mghari, and N. Yamashita, T. Mokrysheva, E. Cranston, and R. Perrier, and Tujor. Even if there are no well-established surveillance guidelines, according to the literature we suggest that CDC73 mutation carriers should undergo the following screening: i Biannual evaluation of serum calcium and PTH for pHPT screening, possibly starting at the age of five, and periodic parathyroid ultrasound examination ii Panoramic X-ray dental imaging at least every five years iii Monitor for kidney lesions by periodic renal ultrasound examination, magnetic resonance imaging, or computed tomography scan at least every 5 years, starting at the age of diagnosis iv Starting at the reproductive age, women with a CDC73 -related disorder should undergo regular gynecologic care, including pelvic ultrasound examination with eventually further imaging studies if clinically indicated.

  • This ossifying fibroma of the right body of the mandible demonstrates the internal ground glass texture more commonly associated with fibrous dysplasia, which, along with Browns tumours, are important differentials for a suspected ossifying fibroma.

  • Morrison, C. Sore in the lining of gastrointestinal tract.

  • Corbetta S

  • Making a diagnosis for a genetic or rare disease can often be challenging. Rubinstein, S.

  • The association between MEST, a predominantly benign tumor characterized by both epithelial and spindle cell stromal components, and HPT-JT syndrome is poorly reported in the literature.

Each entry has a summary of related hyperpadathyroidism articles. Click on the link to view a sample search on this topic. Silveira, F. Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice. Wijewickrama and Noel P. Abnormal head. Pollick H.

Testicular neoplasm. Do you have updated information on this disease? Bartlett, and L. Increased calcium in blood. The aim of this review is to summarize the current knowledge on HPT-JT syndrome including clinical features, genetic, and treatments and to revise the available literature. Silveira, E. Share this content:.

Primary Hyperparathyroidism: Diagnosis, Management, and Therapy

Yart, M. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. Patel, P.

Rigby, M. Kanowski, and K. Elevated circulating parathyroid hormone level. Iacobone, V. Do you have updated information on this disease? Sriphrapradang, P. Frequency The exact prevalence of hyperparathyroidism-jaw tumor syndrome is unknown.

Moreover, because of the reported high prevalence of uniglandular involvement at onset, targeted approaches and selective parathyroid excisions have recently been proposed in order to achieve, whenever possible, the longest possible normocalcemia without permanent hypoparathyroidism, minimizing surgical morbidity and facilitating eventual future surgery for recurrent disease [ 4 ]. Aldred, A. How to Get Involved in Research. Winchester, N. Questions sent to GARD may be posted here if the information could be helpful to others.

Primary Hyperparathyroidism: Diagnosis, Management, and Therapy

Hill et al. Shibata, M. Kawaguchi, S. HPT-JT syndrome is caused by germline mutations of the CDC73 gene that encodes the parafibromin, a ubiquitously expressed, predominantly nuclear protein with antiproliferative properties [ 3 — 6 ]. Benign kidney cysts are the most common kidney feature, but a rare tumor called Wilms tumor and other types of kidney tumor have also been found.

They hypothygoidism present as an enlarging visible or palpable mass, or in some cases, they are only detected on dental X-ray imaging. Recurring pancreas inflammation. Single-gland pHPT. Typically only one of the four parathyroid glands is affected, but in some people, tumors are found in more than one gland. E—E, Muscular weakness.

Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. Bradrick, and A. Palazzo, and M. Medical and Science Glossaries.

  • It is associated with increased risk of parathyroid cancer. Iacobone M

  • Chanplakorn, O.

  • The kidneys are affected in about 20 percent of people with hyperparathyroidism-jaw tumor syndrome.

  • Five of the six affected family members were found to have radiological evidence of jaw tumours, and three underwent surgery to remove them.

Hyperparathyroidism-Jaw Tumor Syndrome, Type 2 Mete, R. Testicular neoplasm. Hyperparathyroidism jaw tumour syndrome is a rare autosomal dominant inherited endocrine neoplasia syndrome, which predisposes carriers to develop a triad of multiple ossifying fibromas of the maxilla and mandible, parathyroid adenomas and carcinomas with consequent hyperparathyroidism as well as renal and uterine tumours. Barzon, M.

Elevated blood parathyroid hormone level. HPT-JT syndrome is caused by germline mutations of the syndromf division cycle 73 CDC73 gene that encodes the parafibromin, a amino acid protein with antiproliferative activity. Bachmeier, C. Hughes, S. Making a diagnosis for a genetic or rare disease can often be challenging. The in-depth resources contain medical and scientific language that may be hard to understand. Bullock, J.

Case Reports in Endocrinology

Hum Genet. With regard to the types of CDC73 mutations reported in the literature, the majority of CDC73 mutations are frameshift, nonsense, and missense variants, as well as small deletions and insertions [ 7 ]. Published 18 Dec Iacobone, B.

Jaw tumor. Vitamin D deficiency is known to be more prevalent among patients with primary hyperparathyroidism, due to multiple possible underlying mechanisms, such as increased conversion of hydroxy vitamin D to 1,dihydroxy vitamin D and increased hepatic inactivation of hydroxy vitamin D level [ 213 ]. Carvalheiro, M. Venous blood samples were obtained from four living members II. La Torre, F.

Due to her young age at diagnosis, genetic testing was performed, which revealed a mutation of CDC Xie, J. Law, C. Clarkson et al. Gstaiger, C. PubMed is a searchable database of medical literature and lists journal articles that discuss Hyperparathyroidism-jaw tumor syndrome. Received 05 Sep

Orphanet lists international laboratories offering diagnostic testing for this condition. Mori, M. Share this content:. Gstaiger, C. Dagur, M. How to Find a Disease Specialist. Approximately cases have been reported in the medical literature.

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There are multiple bilateral ossifying fibromas of the mandible, as is typical of the condition. Orphanet lists international laboratories offering diagnostic testing for this condition. J Clin Pathol.

Guarnieri, M. Kahnoski, J. The following resources provide information relating to diagnosis and testing for this condition. Malandrino, and D. Do you have more information about symptoms of this disease? The tumors are usually noncancerous benignin which case they are called adenomas. Mizusawa, K.

Iacobone, G. Please note: Studies listed on the ClinicalTrials. Vestergaard, L. Dagur, M. Am J Hum Genet. For all other comments, please send your remarks via contact us. Palu G.

Description

N Engl J Med. Stiller, L. The lesion was proven on biopsy to be an ossifying fibroma, although it behaved atypically in an invasive manner. Parathyroid imaging: Technique and role in the preoperative evaluation of primary hyperparathyroidism.

It is meant for health care professionals and researchers. Melsen, P. Shattuck TM Mallette LE. Nie et al. Figure 2.

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In all cases, a single parathyroid involvement was found at surgery, although a metachronous multiglandular involvement causing recurrence after selective parathyroidectomy occurred in Iacobone, L. The exact prevalence of hyperparathyroidism-jaw tumor syndrome is unknown. Inheritance This condition is inherited in an autosomal dominant patternwhich means one copy of the altered gene in each cell is sufficient to cause the disorder. Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred. HPT-JT syndrome is caused by germline mutations of the CDC73 gene that encodes the parafibromin, a ubiquitously expressed, predominantly nuclear protein with antiproliferative properties [ 3 — 6 ]. Hyde, T.

Cetani, E. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. Citation on PubMed. Poor swallowing Swallowing difficulties Swallowing difficulty [ more ].

Clin Endocrinol. Malandrino, and D. Yamazaki, M. Patient I. Figure 2. Morrison, C.

International Journal of Endocrinology

Other Names:. Our objective was to present a young patient with primary hyperparathyroidism who has a positive CDC73 mutation. Yart, M. View at: Google Scholar A. Jaw tumor.

Parathyroidectomy, inwhich revealed the presence of an adenoma, restored normocalcaemia for 3months, following jaw tumor syndrome hyperparathyroidism and hypothyroidism she had recurrent hypercalcaemia with elevated serum PTH concentrations. They may be able to refer you to someone they know through conferences or research efforts. Differential expression of microRNAs in human parathyroid carcinomas compared with normal parathyroid tissue. Kidney cyst. Kirkland JL. It is unknown why only certain tissues seem to be affected by changes in parafibromin.

The management of ossifying fibromas in HPT-JT comprises complete surgical excision of jaw lesions with bone grafting and reconstruction. MedGen 41 C Gomez, L. Adams, P. A high index of suspicion is required for the underlying diagnosis to be recognised, enabling treatment of hyperparathyroidism, early detection of malignant disease and screening of family members.

A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. Melsen, P. However, they demonstrate locally invasive features, e. View at: Google Scholar M. Kong, O. Hyperparathyroidism-Jaw Tumor Syndrome, Type 2 Elevated circulating parathyroid hormone level.

Introduction

Help with Travel Costs. Ciuffi, L. Learn more about the gene associated with Hyperparathyroidism-jaw tumor syndrome CDC Primary hyperparathyroidism is a relatively common endocrine disorder, affecting 7 out of 1, adults.

  • Hobbs M.

  • Villablanca et al.

  • Scott, C.

  • Tomaz, C.

  • Heath H, Hobbs M. Table 1.

Regardless of the denomination of the syndrome, jaw tumors occur rarely, while uterine hyperparahhyroidism is frequently present. Hendy, J. This patient currently has no evidence of jaw, uterine or renal tumors on screening imaging. Support for Patients and Families. Hyperparathyroidism-jaw tumor HPT-JT syndrome is an autosomal dominant disorder characterized by parathyroid tumors in association with fibro-osseous jaw tumors and uterine and renal lesions. Noncancerous fatty lump. Howell, A.

Graphical network of the top 20 diseases related to Hyperparathyroidism 2 with Jaw Tumors:. The majority of the reported jaw tumors in HPT-JT syndrome are ossifying fibromas, benign and generally slow-growing tumors arising from the periodontal ligament in molar or premolar areas [ 85 ]. Am J Hum Genet. Cheung et al. Wilms tumours, nephroblastomas, harmatomas, papillary renal cell carcinomas and an increased incidence of simple renal cysts have been reported in HPT-JT patients [ 15 — 17 ]. A hereditary form of primary hyperparathyroidism with parathyroid carcinoma]. Am J Hum Genet ; 64 : —

Publication types

Pagon, M. Winchester, N. Iacobone et al. Share this content:. Raue F

  • Teaching Resources.

  • Elevated blood parathyroid hormone level. Citation on PubMed.

  • Simonds WF. An orthopantomogram of an year-old female that demonstrates an ossifying fibroma of the right body of the mandible.

The other symptomatic patient III. Haven, F. Wong, E. Corresponding author.

Mete, R. Article of the Year Award: Outstanding research contributions ofas selected by our Chief Editors. Parfitt, M. Elevated blood parathyroid hormone level. Law, C. Sinigaglia et al.

Singh, O. MedGen 41 C Shibata, M.

Lines et al. Trachoo, P. Testicular tumor. Stevenson, K.

Karthiga, J. Access to this database is free of charge. Larg, and B. Click on the link to go to ClinicalTrials.

  • Nazerani Hooshmand T HPT-JT is inherited in an autosomal dominant pattern and can demonstrate incomplete penetrance.

  • HPT-JT syndrome is caused by germline mutations of the cell division cycle 73 CDC73 gene that encodes the parafibromin, a amino acid protein with antiproliferative activity.

  • Sriphrapradang, P.

  • Guest Editor: Vito Guarnieri.

Treatment may involve surgery to remove a parathyroid gland with a tumor, and to remove a jaw tumor. Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a Danish pedigree. This is an open hypothyroidiam article distributed hypothyroidism the Creative Commons Attribution Licensewhich permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Therefore, in case of preoperative imaging techniques localizing concordantly, a single-gland involvement and in absence of suspicion of parathyroid malignancy, a focused approach with selective parathyroidectomy has been proposed. Hyperparathyroidism-jaw tumor syndrome HPT-JT OMIM is a rare autosomal dominant disorder with incomplete penetrance characterized by the development of parathyroid tumors, ossifying fibromas of the mandible and maxilla, cystic and neoplastic renal abnormalities, and hyperplastic and neoplastic uterine involvement [ 12 ].

Mokrysheva, E. Special Issues. At this point, hypothyrojdism to the constellation of nephroblastoma, maxillary tumor, and primary hyperparathyroidism with a parathyroid mass, a possibility of hyperparathyroidism jaw tumor syndrome was suspected although a suggestive family history was not there. Inoue H Marx SJ. Chen, and R. Renal failure Renal failure in adulthood [ more ].

Hyperparathyroidism-jaw tumor syndrome

Porzionato et al. Sparaneo, M. Research Studies from ClinicalTrials. PubMed is a searchable database of medical literature and lists journal articles that discuss Hyperparathyroidism-jaw tumor syndrome.

  • Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

  • Nunes, M.

  • HPT-JT syndrome is caused by germline mutations of the cell division cycle 73 CDC73 gene that encodes the parafibromin, a amino acid protein with antiproliferative activity. Orphanet: 58 Rare renal diseases Rare endocrine diseases.

Abnormal head. At variance with other forms of hereditary hypothyrlidism in which parathyroid tumors are generally benign, HPT-JT is associated with a higher prevalence of atypical adenomas and carcinomas [ 78 ]. Learn more about the gene associated with Hyperparathyroidism-jaw tumor syndrome CDC Please note: Studies listed on the ClinicalTrials.

Russo, G. Clin Endocrinol Oxf. A year-old woman was evaluated for hypercalcemia that was found after surgery for bilateral ovarian cyst removal. Ennazk, G. Publication types Case Reports. Caring for Your Patient with a Rare Disease.

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This condition is inherited in an autosomal dominant patternwhich means one copy of the altered gene in each cell is sufficient to cause the disorder. Iacobone, L. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. Lines et al.

Kidney stones. Hyperparathyroidism-jaw tumor HPT-JT syndrome is an autosomal dominant disorder characterized by parathyroid tumors in association with fibro-osseous jaw tumors and uterine and renal lesions. Bachmeier, C. The earliest reported age of hypercalcemia is seven years [ 20 ]. For most diseases, symptoms will vary from person to person.

The above case highlights an atypical presentation of this rare disease, which presented with nephroblastoma as the first clinical manifestations. Marinho, R. Lumachi, and G. Majumdar, W. Her investigations revealed high total calcium and urinary calcium excretion, with low serum phosphate level.

Renal lesions. Vocke, C. Mizusawa, K. Special Issues. Gstaiger, C. Iwata et al. Parafibromin is ubiquitously expressed in a variety of human tissues, including kidney, liver, stomach, renal cortex tubules, and the pars intermedia of the hypophysis [ 11 ].

Cell ; 75 : — However, Brown jaw tumor syndrome hyperparathyroidism and hypothyroidism are hyperpadathyroidism lytic lesions, which lack the sclerotic rim associated with ossifying fibromas. Wermers, C. The majority of the reported jaw tumors in HPT-JT syndrome are ossifying fibromas, benign and generally slow-growing tumors arising from the periodontal ligament in molar or premolar areas [ 85 ]. The tumour consists of irregular, focally branching islands of immature bone in an abundant fibrous stroma.

  • Published 18 Dec

  • Tired Tiredness [ more ]. Genetics Home Reference has merged with MedlinePlus.

  • J Clin Endocrinol Metab ; 83 : —

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Palazzo, and M. The CDC73 gene provides instructions for making a protein called syhdrome. The gene responsible for parafibromin expression is the HRPT2 tumour suppressor gene also known as the CDC73 genewhich has been localised to a cM region on 1q25 - q31 [ 2 ]. Diagn Histopathol. Skip Nav Destination Article Navigation. Piciu, A.

Ghemigian, I. Hendy, J. Rappaport, and J. As this is a rare disease, it can often be missed due to low degree of suspicion and the ability of the jaw tumor to mimic a metastatic deposit. N Engl J Med ; : — Haven CJ Nazerani Hooshmand T

Hurthle cell thyroid adenoma. Barzon, M. Law, C. Iacobone, C. Camozzi, C.

Rekik, B. The median age of diagnosis of pHPT reported was 27 years range 12—58 [ 21 ], and the mean age ranged between 32 years and 36 years [ 422 ]. Bowl, T. Alsaygh, A. Frasca, P.

Walls, Gumor. Marinho, R. People who are unable to have tumors removed may need a medication called cinacalcet hydrochloride to treat severe hypercalcemia. For these reasons, subtotal parathyroidectomy or total parathyroidectomy with autotransplantation has been suggested in the same setting of other variants of hereditary pHPT, even if autotransplantation has been advocated to theoretically cause tumor dissemination in case of malignant involvement [ 82 ].

Diagnosis Hhperparathyroidism. Parathyroid carcinoma. Xie, J. Journal overview. The association between MEST, a predominantly benign tumor characterized by both epithelial and spindle cell stromal components, and HPT-JT syndrome is poorly reported in the literature. Uchino, and Y. Other Names for This Condition Familial cystic parathyroid adenomatosis Familial primary hyperparathyroidism with multiple ossifying jaw fibromas Hereditary hyperparathyroidism-jaw tumor syndrome HPT-JT Hyperparathyroidism 2.

Christiansen, and L. One patient III. In-Depth Information GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Morreau H.

Hyperparathyroidism-jaw tumor HPT-JT syndrome is an autosomal dominant disorder characterized by parathyroid tumors in association with fibro-osseous jaw tumors and uterine and renal lesions. Kasliwal, A. Article of the Year Award: Outstanding research contributions ofas selected by our Chief Editors. Do you have updated information on this disease? Barzon, M.

Ruffolo, F. Individuals with evidence of a uterine tumor should be managed by a gynecologist on a case-by-case basis. Parathyroid carcinoma, atypical parathyroid adenoma, and jaw tumor occurred in one case; uterine involvement in Other tumors, both benign and cancerous, are often seen in hyperparathyroidism-jaw tumor syndrome. Do you have updated information on this disease? They may present as an enlarging visible or palpable mass, or in some cases, they are only detected on dental X-ray imaging.

Porzionato, V. Abdomen Pancreas: recurring pancreatitis. Pollick H.

Bandgar, and N. Sinigaglia et al. Singh, O. Lim, V.

Novoseek inferred Thakker R. Hyperparathyroidism jaw tumour syndrome HPT-JT is jaw tumor syndrome hyperparathyroidism and hypothyroidism rare autosomal dominant inherited endocrine neoplasia syndrome, which predisposes carriers to develop a triad of multiple ossifying fibromas of the maxilla and mandible, parathyroid adenomas and carcinomas with consequent hyperparathyroidismas well as renal and uterine tumours. Renal failure in adulthood. Abstract Abstract Hyperparathyroidism jaw tumour syndrome is a rare autosomal dominant inherited endocrine neoplasia syndrome, which predisposes carriers to develop a triad of multiple ossifying fibromas of the maxilla and mandible, parathyroid adenomas and carcinomas with consequent hyperparathyroidism as well as renal and uterine tumours.

Clin Endocrinol ; 50 : —6. Martins, C. Mizusawa, S. The ultrasound a demonstrates a hypoechoic parathyroid hypothhroidism arrowhead indenting the thyroid with findings suspicious for underlying invasion of the prevertebral musculature. Moreover, given the malignant potential, sarcomatoid differentiation, and metastatic spread, surgery represents the treatment of choice [ 89 ].

On CT they demonstrate internal soft tissue density, which reflects the fibrous component Fig. Odou, C. Multiglandular involvement occurs rarely at initial surgery Familial primary hyperparathyroidism complicated with Wilms' tumour.

Hypreparathyroidism, F. Gimm, K. The majority of PHPT patients present at the age of 55 to 60 years, and incidence among females is twice that of males [ 6 ]. Home Diseases Hyperparathyroidism-jaw tumor syndrome. Journal overview. She had neither any features of malabsorption nor inadequate exposure to sunlight to suggest a vitamin D deficiency causing these fractures.

You can hyperparathyroidiem learn more about genetic consultations from MedlinePlus Genetics. Lian, B. Individual IV. The patients present with parathyroid tumors, ossifying fibromas of jaw, and a variety of renal and uterine tumors [ 89 ]. It furthers the University's objective of excellence in research, scholarship, and education by publishing worldwide.

  • Thyroid carcinoma, thyrotoxicosis, colon carcinoma, cholangiocarcinoma, chronic lymphatic leukemia, pancreatic adenocarcinoma, and pituitary cyst have also been described, but the association between these less common tumors and HPT-JT syndrome remains unclear [ 44290 ].

  • Kelly, T.

  • Rich, S. Hpt-Jt 57 20 43 58

  • Parafibromin Abnormalities in Ossifying Fibroma.

  • Renal failure in adulthood.

Fatty lump Noncancerous fatty lump [ more ]. Moreover, because of hypothyroiddism reported high prevalence of uniglandular involvement at onset, targeted approaches and selective parathyroid excisions have recently been proposed in order to achieve, whenever possible, the longest possible normocalcemia without permanent hypoparathyroidism, minimizing surgical morbidity and facilitating eventual future surgery for recurrent disease [ 4 ]. Cystic kidney disease is the most common renal manifestation of this syndrome. Villablanca, A. Patel, A. Selective parathyroidectomy may be an effective strategy, but a prolonged follow-up is required because of the risk of recurrences and malignancies. For these reasons, complete surgical removal is the recommended treatment based on the size, location, and symptoms of the lesion.

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Baorda et al. Benign kidney cysts are the most common kidney feature, but a rare tumor called Wilms tumor and other types of kidney tumor have also been found. Yart, M. Support for Patients and Families. Iacobone, A. Cardot-Bauters et al.

Howell, R. A technetium sestamibi scan revealed focal uptake inferior to the left thyroid lobe. The earliest reported age of hypercalcemia is seven years [ 20 ]. Lumachi, and G. Support for Patients and Families. Citation on PubMed. Yamashita, T.

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