Frontal cranioplasty in fronto-metaphyseal dysplasia.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of stomatology, oral and maxillofacial surgery"
DOI: 10.1016/j.jormas.2017.06.001
Abstract: INTRODUCTION Fronto-metaphyseal dysplasia (FMD), also called Gorlin-Cohen syndrome, is a rare syndrome initially described in 1969 by Gorlin and Cohen. Patients present skeletal dysplasia, craniofacial malformations and digit abnormalities. Craniofacial phenotype of FMD is characterized… read more here.
Keywords: frontal cranioplasty; fronto metaphyseal; metaphyseal dysplasia; dysplasia ... See more keywords
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2016.136
Abstract: Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene… read more here.
Keywords: lrrk1 mutation; osteosclerotic metaphyseal; dysplasia; metaphyseal dysplasia ... See more keywords
Osteosclerotic metaphyseal dysplasia, dysosteosclerosis or osteomyelitis? Paediatric case presentation with associated mandibular swelling and a review of the literature
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DOI: 10.1136/bcr-2021-246789
Abstract: Osteosclerotic metaphyseal dysplasia (OMD) is an extremely rare form of osteopetrosis, which bears significant clinical similarities to dysosteosclerosis (DSS). We aim to present a rare case of OMD with mandibular swelling and osteomyelitis infection including… read more here.
Keywords: metaphyseal dysplasia; osteomyelitis; case; literature ... See more keywords
Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.960504
Abstract: Spondylo-epi-metaphyseal dysplasia (SEMD) is a heterogeneous group of disorders with different modes of inheritance and is characterized by disproportionate or proportionate short stature. To date, more than 30 disease-causing genes have been identified, and different… read more here.
Keywords: spondylo epi; phenotype; phenotype genotype; metaphyseal dysplasia ... See more keywords