Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by generalized osteosclerosis and advanced skeletal maturation. The histopathological characteristics of three novel cases (two isolated cases and a sib-pair) of BOCD are presented and correlated with the clinical and radiographical findings, and the relevant literature is reviewed. The results of our study confirm the existence of two separate types of BOCD, which we propose naming type I: the severe, 'classical' form, and type II: a less severe form.
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Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.
Mol Genet Genomic Med
January 2024
Department of Pediatrics, Linyi People's Hospital, Linyi, China.
Background: Mutations in PTH1R are associated with Jansen-type metaphyseal chondrodysplasia (JMC), Blomstrand osteochondrodysplasia (BOCD), Eiken syndrome, enchondroma, and primary failure of tooth eruption (PFE). Inheritance of the PTH1R gene can be either autosomal dominant or autosomal recessive, indicating the complexity of the gene. Our objective was to identify the phenotypic differences in members of a family with a novel PTH1R mutation.
View Article and Find Full Text PDFPrenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
Prenat Diagn
November 2022
Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Objective: 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 (PTHR1). We aim to describe prenatal ultrasonographic features in a retrospective fetal case series of BOCD and emphasize the importance of multidisciplinary antenatal evaluation of LSDs to improve the differential diagnosis.
Method: Prenatal ultrasound findings of five fetal cases diagnosed with BOCD between 2000 and 2019 in the Prenatal Diagnosis Unit and Medical Genetics were reviewed, along with postmortem examination results and confirmatory molecular results.
Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases.
J Matern Fetal Neonatal Med
May 2017
e Department of Fetal Medicine , Mediscan Systems , Chennai , India.
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.
View Article and Find Full Text PDFIdentification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.
PLoS One
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Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark.
Primary Failure of tooth Eruption (PFE) is a non-syndromic disorder which can be caused by mutations in the parathyroid hormone receptor 1 gene (PTH1R). Traditionally, the disorder has been identified clinically based on post-emergent failure of eruption of permanent molars. However, patients with PTH1R mutations will not benefit from surgical and/or orthodontic treatment and it is therefore clinically important to establish whether a given failure of tooth eruption is caused by a PTH1R defect or not.
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