Chondrodysplasia punctata in a three generation family ; A boy and two of his maternal uncles: A case report

Abstract

Chondrodysplasia punctata is a heterogeneous group of skeletal dysplasias characterized by punctuate calcification in cartilage. Additionally, patients with Chondrodysplasia punctata mayhave hypoplastic distal phalanges, nasal hypoplasia, laryngomalasia, short stature, and atrophic and pigmentary lesions of the skin. Sixteen years old boy was hospitalized with the complaints of markedly short stature and severe respiratory distress. He was also suffering from osteoarthritic symptoms and was misdiagnosed as relapsing polychondritis in another hospital. Radiological examination revealed irregular calcification in epiphyses, asymmetric shortening of the limbs and significantly hypoplastic distal phalanges in both hands. CT shovved severe stenosis and tracheal calcification in subglottic area. One of his two maternal undes who were considered to have the same syndrome had died from respiratory insufficiency at the age of 17 years because of tracheal involvement. The other ünde (he is 44 years old now) bore a strong resemblance to the proband. He underwent an operation at the age of 17 years for tracheal stenosis. Ali affected family members have developed severe tracheal stenosis at the same age in their life. Pedigree analysis supported X-linked recessive inheritance.