Blomstrand osteochondrodysplasia (BOCD) is a rare autosomal recessive sclerosing skeletal dysplasia characterized by accelerated chondrocyte differentiation. In this article, we discuss three cases where lethal skeletal dysplasia was suspected and Blomstrand dysplasia was diagnosed by autopsy. Antenatal ultrasound findings include increased nuchal translucency, tetramicromelia and polyhydramnios. Radiological hallmark is advanced skeletal maturation and bone sclerosis. Histology of long bones revealed narrow cartilagenous cap and changes in the physeal growth zone which showed severe hypoplasia and disorganization of proliferative phase and hypertrophic phase. Homozygous and compound heterozygous mutations in PTHR1 gene have been implicated in the pathogenesis of this chondrodysplasia.
Idiopathic arterial calcification of infancy is a rare autosomal recessive disease, characterized by deposition of calcium along the internal elastic membrane of arteries, accompanied by fibrous thickening of the intima which causes luminal narrowing. We hereby report a series of 20 cases seen over a period of 10 years. Nineteen cases were reported as idiopathic arterial calcification and one was reported as arterial calcification in a twin reversed arterial perfusion sequence. The sites of calcification were mainly aortic valve and root of aorta which was involved in 100% of cases followed by pulmonary artery up to its branches in 18 (90%) cases. There was recurrence in the subsequent pregnancies in three of the cases. Genetic association with ENPP1 was proved in one case. There was no survival in all the cases. Thus, the prognosis of idiopathic arterial calcification is very poor with very few long-term survivors.
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