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Campomelic Dysplasia

Camptomelic dysplasia
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Campomelic Dysplasia" returned 1 free, full-text review articles. First 1 results:
Familial campomelic dysplasia due to maternal germinal mosaicism.
Last Updated: Jan 31, 2019

Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous SOX9 mutations. Most patients are sporadic due to a de novo mutation. Familial campomelic dysplasia is very rare. We report on a familial campomelic dysplasia caused by maternal germinal mosaicism. ...

Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck.
Last Updated: Feb 14, 2017

Campomelic dysplasia is a rare and historically lethal skeletal dysplasia with a variable but recognizable phenotype; it affects the long bones and is associated with a variety of head and neck anomalies. Mutations in or around the SOX9 gene have been identified as the molecular origin ...

Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival.
Last Updated: Sep 07, 2019

Campomelic dysplasia (CD) is a rare and usually fatal congenital skeletal disorder with respiratory failure. The SOX9 gene has been cloned as a candidate gene for CD. Here, we report the cases of 2 Japanese patients with CD who have survived for over 5 years. Molecular investigations ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Campomelic Dysplasia" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Campomelic Dysplasia" returned 26 free, full-text research articles. First few results:
When standard genetic testing does not solve the mystery: a rare case of preimplantation genetic diagnosis for campomelic dysplasia in the setting of parental mosaicism.
Last Updated: Feb 21, 2019

To report a rare case of somatic mosaicism with a germline component of campomelic dysplasia in a woman undergoing in vitro fertilization with preimplantation genetic diagnosis (IVF-PGD).

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of .
Last Updated: Jun 10, 2019

Campomelic dysplasia is a rare skeletal dysplasia characterized by Pierre Robin sequence, craniofacial dysmorphism, shortening and angulation of long bones, tracheobronchomalacia, and occasionally sex reversal. The disease is due to mutations in or chromosomal rearrangements involving ...

Absent pedicles in campomelic dysplasia.
Last Updated: Nov 13, 2018

The objective of the present study is to report a case of campomelic dysplasia illustrating the absence of cervical and thoracic pedicles. This report reiterates the importance of this clinical peculiarity in the setting of spine instrumentation.

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26 Free Research Articles 84 Research Articles