Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.

American journal of medical genetics. Part A - 1 Jul 2018

Rehder Helga, Laccone Franco, Kircher Susanne G, Schild Ralf L, Rapp Christiane, Bald Rainer, Schulze Bernt, Behunova Jana, Neesen Juergen, Schoner Katharina

Abstract excerpt

The Piepkorn type of lethal osteochondrodysplasia (POCD) is a rare and lethal dwarfing condition. Four cases have been reported to date. The characteristic features are distinctly shortened "flipper-like" limbs, polysyndactyly, excessive underossification, especially of the limb bones and vertebrae, and large (giant) chondrocytes in the cartilaginous bone primordia. These characteristics allowed the diagnosis of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Dwarfism
Share to Facies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fetal Diseases

Share to Filamins

Share to Mutation

Share to Osteochondrodysplasias

Share to Prognosis

Source

Open in PubMed Open full text

Identifiers

PMID: 29797497
DOI: 10.1002/ajmg.a.38828
PMCID: PMC6585644

Genes

FLNB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.PMID 29797497Read ↗

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2Semantic proximity Read ↗

A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.Semantic proximity Read ↗

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.Semantic proximity Read ↗

Filamin B: The next hotspot in skeletal research?Semantic proximity Read ↗

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.Semantic proximity Read ↗

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.Semantic proximity Read ↗

Skeletal Survey of a Filipino Teenage Female with Ohdo syndrome: Case ReportSemantic proximity Read ↗

Lethal and life-limiting skeletal dysplasias: Selected prenatal issuesSemantic proximity Read ↗

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.Semantic proximity Read ↗

Polydactyly: how many disorders and how many genes? 2010 update.Semantic proximity Read ↗

Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia.Semantic proximity Read ↗

Fetal phenotypes in otopalatodigital spectrum disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.