Jordan's anomaly in a case of Chanarin-Dorfman syndrome.

06:00 EDT 22nd June 2011 | BioPortfolio

Summary of "Jordan's anomaly in a case of Chanarin-Dorfman syndrome."

No Summary Available


Department of Clinical Haematology, Royal Manchester Children's Hospital, Manchester, UK Department of Genetic Medicine, St Mary's Hospital, Manchester, UK Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacolo

Journal Details

This article was published in the following journal.

Name: British journal of haematology
ISSN: 1365-2141


PubMed Articles [13408 Associated PubMed Articles listed on BioPortfolio]

Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation.

Chanarin Dorfman Syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. It is inherited as an autosomal recessive manner. It is characterized with congenital ich...

Endodontic management of a hypertaurodontic tooth associated with 48, XXYY syndrome: A review and case report.

Taurodontism is a developmental anomaly of a tooth characterized by large pulp chamber and short roots. Patients with multiple taurodontic teeth are associated with the probability of a systemic syndr...

The Causative Gene in Chanarian Dorfman Syndrome Regulates Lipid Droplet Homeostasis in C. elegans.

AMP-activated kinase (AMPK) is a key regulator of many cellular mechanisms required for adjustment to various stresses induced by the changing environment. In C. elegans dauer larvae AMPK-null mutants...

A Case of WAGR Syndrome with Peters' Anomaly.

Oropharyngeal trauma mimicking a first branchial cleft anomaly.

We present a unique and challenging case of a remnant foreign body that presented to us in a child disguised as a strongly suspected congenital branchial cleft anomaly. This case entailed oropharyngea...

Clinical Trials [2861 Associated Clinical Trials listed on BioPortfolio]

Genes Causing Ebstein's Anomaly

This study will investigate Ebstein's anomaly, a congenital abnormality of the tricuspid valve of the heart and try to identify the genetic origins of the disease. Adults and children 2 y...

Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens

This study will investigate congenital or developmental eye abnormalities that affect the iris, cornea and lens, and are usually accompanied by elevated pressure within the eye. These diso...

Physiologic Evaluation of Anomalous Right Coronary Artery Stenosis

The anomalous origin of right coronary artery (RCA) is a rare coronary anomaly. Recently, the detection of this anomaly has been more frequent as the use of cardiac multidetector computed ...

Morquio's Syndrome: a Case Study

OBJECTIVES: Relating about the benefits proportionated by the physiotherapeutic treatment for the patients that have the Morquio's syndrome. METHODS: This study intends to analyse a patien...

The Effect of Individualised Homoeopathic Treatment Using the Grant Bentley Method in Premenstrual Syndrome

Premenstrual syndrome (PMS) is related to the changes in the levels of hormones predominately progesterone, oestrogen and prolactin, during the luteal phase of the menstrual cycle. Both ph...

Medical and Biotech [MESH] Definitions

A supernumerary rib developing from an abnormal enlargement of the costal element of the C7 vertebra. This anomaly is found in 1-2% of the population and can put pressure on adjacent structures causing CERVICAL RIB SYNDROME; THORACIC OUTLET SYNDROME; or other conditions.

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

Artificial substitutes for body parts, and materials inserted into tissue for functional, cosmetic, or therapeutic purposes. Prostheses can be functional, as in the case of artificial arms and legs, or cosmetic, as in the case of an artificial eye. Implants, all surgically inserted or grafted into the body, tend to be used therapeutically. IMPLANTS, EXPERIMENTAL is available for those used experimentally.

Work consisting of an acknowledgment of an error, issued by a publisher, editor, or author. It customarily cites the source where the error occurred, giving complete bibliographic data for retrieval. In the case of books and monographs, author, title, imprint, paging, and other helpful references will be given; in the case of journal articles, the author, title, paging, and journal reference will be shown. An erratum notice is variously cited as Errata or Corrigenda.


Relevant Topic

Latest News Clinical Trials Research Drugs Reports Corporate
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...