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Case Reports

Indian Pediatrics 2000;37: 435-440

Jansen’s Metaphyseal Chondrodysplasia

A. Sood
D. Sama
R. Sharma*
S. Rastogi**

From the Departments of Endocrinology and Meta-bolism, Radiodiagnosis* and Orthopedics**, All India Institute of Medical Sciences, New Delhi 110 029, India.

Reprint requests: Dr. Ajay Sood, Assistant Professor, Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110 029, India.

Manuscript Received: August 19, 1999;
Initial review completed: September 21, 1999;
Revision Accepted: October 18, 1999

Metaphyseal chondrodysplasia previously known as metaphyseal dysostosis, is a rare autosomal dominant disorder of endochondral ossification, characterized by accumulation of cartilage in various skeletal sites, specifically metaphysis of tubular bones(1). Twenty cases of Jansen’s metaphyseal chondrodysplasia had been reported till 1994(2), and subsequently there is no case report in the Medline literature. Clinical diagnosis is made on the basis of short stature with bowing of the legs in newborn period or early infancy. There is marked widening of the joints with contractures. Striking radiological changes include expanded and cup shaped metaphysis with normal epiphysis and diaphysis(3), Half the number of the cases may have hypercalcemia and hypo-phosphatemia(4,5). This entity may simulate rickets refractory to vitamin D, renal tubular acidosis, renal osteodystrophy, hyperpara-thyroidism or hypophosphatasia(6). Jansen’s metaphyseal chondrodysplasia has not been reported in the Indian literature.

  Case Report

A female child of 6˝ years with history of birth at 32 weeks gestation presented with early onset of multiple bony deformities. Her birth weight was 1.5 kilograms. Nasogastric feeding was given for the initial few weeks of her life. Widening of wrists, knees and ankle joints, and chest deformities were noticed at the age of one month. Her weight at ten months of age was six kilograms. Motor development was slow. She developed joint contractures and was not able to sit, stand or walk. Despite the administration of calcium and vitamin D her deformities worsened. She had fractured her left forearm at the age of two years. Other developmental milestones were normal. She suffered from recurrent respiratory tract infections since the age of one month. There was no history of parental consanguinity or family history of metabolic bone disease. Her sister had normal growth and development.

Examination revealed that the child (Fig.1) was thin built.

She had less than average intelligence (Intelligent Quotient 60 to 70). Her length was 88 cm, which was less than 2 standard deviations by Indian Council of Medical Research standards(7). The calculated midparental height was 156.3 cms, which is 75th percentile of Indian Council of Medical Research standards. The head circumference was 48.5 cm. She had normal hair, skin and eyes. She had bowing of upper and lower limb long bones, widening of wrists and ankle joints. Contractures of left elbow, right hip and both knee joints (flexion deformities) were present. Flexion deformities were also present at proximal interphalangeal joints. Frontal bossing, rachitic rosary, Harrison’s sulcus were present. The spine was normal on clinical examination. The patient had generalized hypotonia with normal reflexes, without any sensory nerve involvement. Rest of the systemic examination was normal.
Fig. 1. Photograph of the patient showing severe deformities.

Laboratory investigations revealed serum calcium 9.3 mg/dl, phosphorus 5.6 mg/dl and alkaline phosphatase 12.9 KAU. Twenty-four hour urinary excretion of calcium was 52 mg and phosphorus 275 mg. Hematological parameters, blood urea, serum creatinine and serum electrolyes were normal. Her renal tubular absorption of phosphate was 84%.

Radiological investigations: Radiographs of the upper extremity (Fig. 2) showed marked widening and fraying of the metaphyses of humerus, radius and ulna with an irregular fragmented appearance.

Fig. 2. AP radiograph of the upper extremity shows bilateral symmetrical widening, fraying and irregular fragmented appearance of all the metaphyses with sparing of the epiphyses.


 Severe metaphyseal irregularity, widening and fragmented appear-ance with diaphyseal bowing were also seen to involve the femur, tibia and fibula (Fig. 3). The epiphyses of the long tubular bones of both the upper and lower extremities were bulbous. Small tubular bones (metacarpals and meta-tarsals) showed irregular metaphyses with normal epiphyses. Chest radiograph (Fig. 4) revealed irregular costochondral junctions, glenoid fossae and inferior angles of scapulae. Lateral radiograph of the dorsolumbar spine (Fig. 5) revealed an increased height of the vertebral bodies with an ovoid configuration, and increased density of the antero-superior and antero-inferior margins of vertebrae. The skull radiograph was normal. Radiographs of the patient at 2 years of age also showed similar findings, although of less severity (Fig. 6).

Fig. 3. AP radiograph of the lower extremity shows gross metaphyseal irregularity widening with diaphyseal bowing. The epiphyses are bulbous.

Fig. 4. Chest skiagram shows irregular costochondral junctions, glenoid fossae 
and inferior angles of scapulae.

Fig. 5. Lateral radiograph of dorsolumbar spine shows increased height of the vertebral bodies with increased density at the antero-superior and antero-inferior margins.

Fig. 6. AP radiograph of legs taken at two years of age shows only mild metaphyseal irregularity with sparing of epiphyses and diaphyses.



1. Charrow J, Poznanski AK. The Jansen type of metaphyseal chondrodysplasia: Confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult. Am J Med Genet 1984; 18: 321-327.

2. Lachman RS. Skeletal dysplasias–Metaphyseal chondrodysplasia, Jansen type. In: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias, 4th edn. Eds. Tyabi H, Lachman RS. Mosby, St. Louis, 1996; pp 852-853.

3. Nazara Z, Hernandez A, Corona-Rivera E, Vaca G, Panduro A, Martinez-Basalo C, et al. Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type. Radiology 1981; 140: 697-700.

4. Gordon SL, Varano LA, Alandete A, Maisels MJ. Jansen’s metaphyseal dysostosis. Pediatrics 1976; 58: 556-560.

5. Parfitt AM, Schipani E, Rao DS, Kupin W, Han ZH, Juppner H. Hypercalcemia due to constitutive activity of parathyroid hormone (PTH)/PTH-related peptide receptor: Compari-son with primary hyperparathyroidism. J Clin Endocrinol Metabl 1996; 81: 3584-3588.

6. Silverthorn KG, Houston CS, Duncan BP. Murk Jansen’s metaphyseal chondrodysplasia with long-term followup. Pediatr Radiol 1987; 17: 119-123.

7. Indian Council of Medical Research. Growth and Physical Development of Indian Infants and Children. Technical Report Series No. 18, New Delhi, Indian Council of Medical Research, 1972,
p 67.

8. Holthusen W, Holt JF, Stoeckenius M. The skull in Jansen type metaphyseal chondrodysplasia. Pediatr Radiol 1975; 3: 137-144.

9. Schipani E, Jensen GS, Pincus J, Nissenson RA, Gardella TJ, Juppner H. Constitutive activation of the cyclic adenosine 3’, 5’–monophosphate signaling pathway by parathyroid hormone (PTH)/ PTH-related peptide receptors mutated at the two loci for Jansen’s metaphyseal chondrodysplasia. Mol Endocrinol 1997; 11: 851-858.

10. Gardella TJ, Luck MD, Jensen GS, Schipani E, Potts JT, Juppner H. Inverse agonism of amino-terminally truncated parathyroid hormone (PTH) and PTH-related peptide (PTHrP) analogs revealed with constitutively active mutant PTH/PTHrP receptors. Endocrinology 1996; 137: 3936-3941.


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