The Jansen type of metaphyseal chondrodysplasia: Confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult

The Jansen type of metaphyseal dysplasia (JMD) is a rare disorder characterized by growth disturbance and progressive metaphyseal changes initially reminiscent of rickets or primary hyperparathyroidism. Seven of the 16 patients described until now presented with hypercalcaemia of unknown origin. We report studies of calcium metabolism in a hypercalcaemic girl with JMD during the first 3 years of life. The patient presented with hypercalcaemia, hypercalciuria, elevated urinary phosphate and cyclic adenosine monophosphate (AMP) excretion as well as increased 1,25-dihydroxyvitamin D concentrations in serum despite suppressed or low normal values of circulating intact parathyroid hormone (PTH) and PTH related peptide (PTHrP). Measurements of biochemical indices of bone turnover indicated increased bone resorption without sufficient compensatory bone formation. The study suggests that the hypercalcaemia in our patient was caused by an unknown factor, which is not PTH or PTHrP, with osteolytic activity and stimulatory effect on the proximal kidney tubule.

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“…Hyperostosis of the calvaria and base of the skull are found. Inheritance is autosomal dominant with most cases being fresh mutations [3].…”

Section: Introductionmentioning

confidence: 99%

Calcium metabolism in the jansen type of metaphyseal dysplasia

Kruse

Schütz

1993

Eur J Pediatr

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“…Although such mechanisms might be unclear, alterations in the manifestations of bone disease beyond early life are recognized in other conditions, such as Jansen metaphyseal chondrodysplasia, which is caused by constitutive activation of the PTHrP receptor (7) ; in that case, there is an evolution of the metaphyseal abnormalities from a rickets-like appearance in infancy to one of metaphyseal lucency and cortical thickening. (8) …”

Section: Discussionmentioning

confidence: 99%

Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: Clues to pathogenesis

Arundel

Offiah

Bishop

2010

Journal of Bone and Mineral Research

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We present the first report of the development of characteristic radiologic appearances of long bones during the first year of life in an infant with type V osteogenesis imperfecta (OI). We show the evolution of metaphyseal abnormalities from a rickets-like appearance to the classically described dense metaphyseal bands. These abnormalities suggest that the underlying defect in type V OI may involve a molecule common to both bone and cartilage that is involved in the regulation of growth plate development and metadiaphyseal ossification. Our findings provide new insights into skeletal development in type V OI and potentially yield useful clues to the identity of the defect underpinning the condition. ß

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“…86 At that time, the biochemical abnormalities could not be readily distinguished from those observed in primary hyperparathyroidism, but surgical exploration of the patient revealed no obvious abnormalities of the parathyroid glands, leading to the conclusion that the changes in mineral metabolism were caused by an undefined metabolic defect. 86 Most reported cases of JMC are sporadic, but the description of two unrelated affected women, who gave birth to affected daughters, [87][88][89] suggested an autosomal dominant mode of inheritance. This conclusion was subsequently confirmed at the molecular level for one of these families.…”

Section: Jansen's Metaphyseal Chondrodysplasiamentioning

confidence: 99%