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Skeletal mineralization: mechanisms and diseases

Michigami

Skeletal mineralization is initiated in matrix vesicles (MVs), the small extracellular vesicles derived from osteoblasts and chondrocytes. Calcium and inorganic phosphate (Pi) taken up by MVs form hydroxyapatite crystals, which...
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Vitamin D Dependent Rickets Type 1A Caused by CYP27B1 Mutation

Bak NR, Song ES, Yang EM, Kim CJ

Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in CYP27B1 . Clinical findings are growth retardation, hypotonia, muscle weakness, hypocalcemic seizures, and radiological...
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A Case of Congenital Hepatoblastoma Presented with Hepatic Osteodystrophy Complicated by Multiple Bone Fractures

So YH, Kim DS, Yoon BA, Choi YD, Baek HJ, Kook H

Hepatic osteodystrophy is frequent complication in patients with chronic liver disease, particularly with chronic cholestasis. We report a male infant with congenital hepatoblastoma, who had osteodystrophy complicated by multiple bone...
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Imaging of Thoracic Wall Abnormalities

Semionov A, Kosiuk J, Ajlan A, Discepola

Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute...
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A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene

Kim YM, Jang YY, Jeong JE, Park HJ, Jang JH, Kim JK

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A, OMIM 264700) is a rare autosomal recessive inherited disorder. Pathogenic variants in the CYP27B1 gene lead to loss of 1α-hydroxylase activity. We report...
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Tumor-induced osteomalacia

Yin Z, Du J, Yu F, Xia W

Tumor-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic syndrome characterized by hypophosphatemia resulting from decreased tubular phosphate reabsorption, with a low or inappropriately normal level of...
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets

Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate...
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Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families

Park E, Phaymany V, Yi ES, Phangmanixay S, Cheong HI, Choi Y

Primary distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene, which encodes for erythroid and kidney isoforms of anion exchanger, shows marked difference in inheritance patterns and...
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Celiac Disease in South Jordan

Altamimi E

PURPOSE: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the...
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X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female

Vidmar AP, Miyazaki B, Sanchez-Lara PA, Pitukcheewanont P

There are currently no published cases that report concomitant Turner syndrome (TS), 2q37 deletion syndrome and X-linked hypophosphatemic rickets (XLH). Interestingly, since the clinical phenotypes of TS and 2q37 deletion...
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Pathological Fracture of Femoral Neck Leading to a Diagnosis of Wilson's Disease: A Case Report and Review of Literature

Bhatnagar , Lingaiah P, Lodhi JS, Karkhur Y

Wilson's disease (WD) is a rare inherited disorder of copper metabolism. It chiefly has hepatic, neurological and ophthalmic manifestations. Although osteoporosis, rickets and early arthritis are common features of WD,...
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Dental management of patients with X-linked hypophosphatemia

Lee BN, Jung HY, Chang HS, Hwang YC, Oh WM

X-linked hypophosphatemia (XLH) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine, and an associated decrease in serum calcium and potassium...
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Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A

Cho JH, Kang E, Kim GH, Lee BH, Choi JH, Yoo HW

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who...
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A Case of Cytomegalovirus Infection in a Neonate with Osteopetrosis

Lee SH, Shin JH, Choi BM, Kim YK

Infantile osteopetrosis is a rare congenital disorder caused by abnormal bone resorption. Patients with osteopetrosis can have severe anemia, thrombocytopenia, hepatosplenomegaly, rickets, visual impairment, and deafness. Cytomegalovirus also can cause...
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Risk Factors for Rickets of Prematurity in Extremely Low Birth Weight Infants

Choi YJ, Lee SM, Shin JE, Eun HS, Park MS, Park KI, Namgung R

PURPOSE: This study aimed to analyze the risk factors for the development of rickets of prematurity in extremely low birth weight (ELBW) infants. METHODS: We retrospectively reviewed the data of 57...
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Formula fed twin infants with recurrent hypocalcemic seizures with vitamin D deficient rickets and hyperphosphatemia

Jo BW, Shim YJ, Choi JH, Kim JS, Lee HJ, Kim HS

Vitamin D deficient rickets is generally known to occur in breast fed infants. And excessive phosphate ingestion is a main cause of late onset hypocalcemia in formula fed infants. Here...
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Cervical Ossification of Posterior Longitudinal Ligament in X-Linked Hypophosphatemic Rickets Revealing Homogeneously Increased Vertebral Bone Density

Shiba M, Mizuno M, Kuraishi K, Suzuki H

There is no report that describes in detail the radiological and intraoperative findings of rickets with symptomatic cervical ossification of the posterior longitudinal ligament. Here, we describe a case of...
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Osteopetrosis Associated with Hydrocephalus and Rickets: A Case Report

Hwang SM, Kong YH, Kim SJ

  • KMID: 2176754
  • J Korean Child Neurol Soc.
  • 2014 Sep;22(3):169-172.
Osteopetrosis or albers-Schonberg disease is extremely rare disease. It is characterized by osteoporosis, stunted growth, deformity, increased likelihood of fractures, also patients suffers anemia, recurrent infections and hepatosplenomegaly. However, we...
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A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets

Kang YE, Hong JH, Kim J, Joung KH, Kim HJ, Ku BJ, Kim KS

Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations...
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A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature

Cheon CK, Lee HS, Kim SY, Kwak MJ, Kim GH, Yoo HW

X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide variety of PHEX gene...
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