Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata
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DOI: 10.1007/s00247-018-4098-8
Abstract: BackgroundChondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes ranging from antenatal demise to a normal life span. Prenatal detection can be challenging.ObjectiveTo review a series of cases of… read more here.
Keywords: phenotype; prenatal mri; chondrodysplasia punctata; binder phenotype ... See more keywords
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Orthopaedics"
DOI: 10.1097/bpo.0000000000001014
Abstract: Background: Cervical spine deformity in rhizomelic chondrodysplasia punctata (RCDP) has been described with different findings reported in the literature. However, available literature provides limited data from a few cases with magnetic resonance imaging (MRI) of… read more here.
Keywords: chondrodysplasia punctata; rhizomelic chondrodysplasia; spine; cervical spine ... See more keywords
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata
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DOI: 10.1097/mcd.0000000000000419
Abstract: We describe a female infant with X-linked chondrodysplasia punctata (CDPX1) as a result of maternal isodisomy of the X chromosome. Targeted Sanger sequencing and targeted next-generation sequencing of ARSL were used to test for the… read more here.
Keywords: uniparental disomy; mechanism linked; disomy mechanism; linked chondrodysplasia ... See more keywords
Chondrodysplasia punctata (CDPX2) in a male caused by single‐gene mosaicism: A 20‐year follow‐up
Sign Up to like & getrecommendations! Published in 2019 at "Australasian Journal of Dermatology"
DOI: 10.1111/ajd.12938
Abstract: 1. Nishikawa T, Shimizu H, Hashimoto T. Role of IgA intercellular antibodies: report of clinically and immunopathologically atypical cases. Proceedings of the XVII World Congress Dermatol. 1987; 383–4. 2. Toosi S, Collins JW, Lohse CM… read more here.
Keywords: iga; igg iga; iga pemphigus; chondrodysplasia punctata ... See more keywords
Posterior and Anterior Fusion for Severe Cervical Kyphosis in a Patient with Chondrodysplasia Punctata: A Case Report.
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DOI: 10.2106/jbjs.cc.20.00646
Abstract: CASE A 4-year-old girl with spastic gait and hand clumsiness who was diagnosed with cervical myelopathy caused by atlantoaxial dislocation and midcervical severe kyphosis associated with chondrodysplasia punctata (CDP). The patient underwent posterior instrumentation and… read more here.
Keywords: anterior fusion; posterior anterior; chondrodysplasia punctata; fusion ... See more keywords
[Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report].
Sign Up to like & getrecommendations! Published in 2017 at "Revista chilena de pediatria"
DOI: 10.4067/s0370-41062017000400011
Abstract: INTRODUCTION Peroxisomal diseases are a group of monogenic disorders that include defects in peroxisome biogenesis or enzyme dificiencies. Rhizomelic chondrodysplasia punctata type 1 (RCDP1) belongs to the first group, caused by autosomal recessive mutations on… read more here.
Keywords: chondrodysplasia punctata; punctata; punctata type; report ... See more keywords