Severe X-linked chondrodysplasia punctata in nine new female fetuses.

doi:10.1002/pd.4591

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

Community

Back to search

Article

Severe X-linked chondrodysplasia punctata in nine new female fetuses.

Prenatal diagnosis - 1 Jul 2015

Lefebvre Mathilde, Dufernez Fabienne, Bruel Ange-Line, Gonzales Marie, Aral Bernard, Saint-Onge Judith, Gigot Nadège, Desir Julie, Daelemans Caroline, Jossic Frédérique, Schmitt Sébastien, Mangione Raphaele, Pelluard Fanny, Vincent-Delorme Catherine, Labaune Jean-Marc, Bigi Nicole, D'Olne Dominique, Delezoide Anne-Lise, Toutain Annick, Blesson Sophie, Cormier-Daire Valérie, Thevenon Julien, El Chehadeh Salima, Masurel-Paulet Alice, Joyé Nicole, Vibert-Guigue Claude, Rigonnot Luc, Rousseau Thierry, Vabres Pierre, Hervé Philippe, Lamazière Antonin, Rivière Jean-Baptiste, Faivre Laurence, Laurent Nicole, Thauvin-Robinet Christel

Abstract excerpt

OBJECTIVES: Conradi-Hünermann-Happle [X-linked dominant chondrodysplasia punctata 2 (CDPX2)] syndrome is a rare X-linked dominant skeletal dysplasia usually lethal in men while affected women show wide clinical heterogeneity. Different EBP mutations have been reported. Severe female cases have rarely been reported, with only six antenatal presentations. METHODS: To better characterize the phenotype in female...

Read the complete abstract on PubMed

Topics

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

Share to Chondrodysplasia Punctata

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pregnancy

Share to Pregnancy Trimester, Second

Share to Radiography

Share to Severity of Illness Index

Share to Steroid Isomerases

Share to Ultrasonography, Prenatal

Share to X Chromosome Inactivation

Source

Open in PubMed

Identifiers

PMID: 25754886
DOI: 10.1002/pd.4591

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe X-linked chondrodysplasia punctata in nine new female fetuses.PMID 25754886Read ↗

Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.Semantic proximity Read ↗

X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings.Semantic proximity Read ↗

Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata.Semantic proximity Read ↗

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.Semantic proximity Read ↗

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.Semantic proximity Read ↗

[Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2].Semantic proximity Read ↗

Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.Semantic proximity Read ↗

Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.Semantic proximity Read ↗

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.Semantic proximity Read ↗

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.Semantic proximity Read ↗

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.Semantic proximity Read ↗

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.Semantic proximity Read ↗

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