Title: Jansen Type Metaphyseal Chondrodysplasia-A Rare Presentation

Authors: Dr Abir Lal Nath, Dr Shweta Nair, Dr Rajdeep Pal

 DOI:  http://dx.doi.org/10.18535/jmscr/v3i12.26

Abstract

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).  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(2), Half the number of the cases may have hypercalcemia and hypo-phosphatemia(3,4). This entity may simulate rickets refractory to vitamin D, renal tubular acidosis, renal osteodystrophy, hyperpara-thyroidism or hypophosphatasia(5).We report a 1 year old female with complain of history of birth at 32 weeks gestation presented with early onset of multiple bony deformities. Her birth weight was 2.5 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. Despite the administration of calcium and vitamin D her deformities worsened.  There was no history of parental consanguinity or family history of metabolic bone disease.

Keywords:Metaphyseal chondrodysplasia, metaphyseal dysostosis

References

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.    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.

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

4.   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.

5. Silver thorn KG, Houston CS, Duncan BP. Murk Jansen’s metaphyseal chondrodysplasia with long-term follow up. Pediatr Radiol 1987; 17: 119-123

Corresponding Author

Dr Abir Lal Nath

MBBS, PG Student MD Pediatrics

Department of Pediatrics DY Patil Medical College

DY Patil Medical College Navi Mumbai India