Severe skeletal dysplasia with metaphyseal involvement and abnormal mineral metabolism
IMAGING
Ultrasonographic Findings
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Schipani E et al: NORD National Organization for Rare Disorders - Jansen type metaphyseal chondrodysplasia. Accessed January 31, 2021. https://rarediseases.org/rare-diseases/jansen-type-metaphyseal-chondrodysplasia/
de França M et al: Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis. Radiol Case Rep. 15(12):2554-6, 2020
Jee YH et al: Genetics of short stature. Endocrinol Metab Clin North Am. 46(2):259-81, 2017
Nampoothiri S et al: Jansen metaphyseal chondrodysplasia due to heterozygous H223R-PTH1R mutations with or without overt hypercalcemia. J Clin Endocrinol Metab. 101(11):4283-9, 2016
Savoldi G et al: Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. Am J Med Genet A. 161A(10):2614-9, 2013
Schipani E et al: Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Engl J Med. 335(10):708-14, 1996
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References
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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
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Diagnostic Checklist
TERMINOLOGY
Synonyms
Metaphyseal dysplasia, Jansen type
Jansen metaphyseal chondrodysplasia
Definitions
Severe skeletal dysplasia with metaphyseal involvement and abnormal mineral metabolism
IMAGING
Ultrasonographic Findings
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Schipani E et al: NORD National Organization for Rare Disorders - Jansen type metaphyseal chondrodysplasia. Accessed January 31, 2021. https://rarediseases.org/rare-diseases/jansen-type-metaphyseal-chondrodysplasia/
de França M et al: Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis. Radiol Case Rep. 15(12):2554-6, 2020
Jee YH et al: Genetics of short stature. Endocrinol Metab Clin North Am. 46(2):259-81, 2017
Nampoothiri S et al: Jansen metaphyseal chondrodysplasia due to heterozygous H223R-PTH1R mutations with or without overt hypercalcemia. J Clin Endocrinol Metab. 101(11):4283-9, 2016
Savoldi G et al: Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. Am J Med Genet A. 161A(10):2614-9, 2013
Schipani E et al: Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Engl J Med. 335(10):708-14, 1996
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