Article
Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 1 May 2017
Beena Suresh, Murlidhar Lata, Seshadri Suresh, Jagadeesh Sujatha, Suresh Indrani
Abstract excerpt
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...
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