Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis
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DOI: 10.1002/pd.6208
Abstract: Blomstrand osteochondrodysplasia (BOCD, MIM #215045) is an ultrarare lethal skeletal dysplasia (LSD) perinatally, characterized by extremely advanced bone maturation, generalized osteosclerosis, and severe tetramicromelia caused by biallelic loss‐of‐function mutations in the parathyroid hormone receptor‐1 gene… read more here.
Keywords: blomstrand osteochondrodysplasia; radiology; prenatal ultrasonographic; ultrasonographic features ... See more keywords