Jordan's anomaly in a case of Chanarin-Dorfman syndrome.
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
This article was published in the following journal.
Name: British journal of haematology
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21689090
- DOI: http://dx.doi.org/10.1111/j.1365-2141.2011.08780.x
Branchial cleft cysts, sinuses, and fistulas are the most common congenital lateral neck lesions in children. They arise as a result of an abnormal development of the branchial arches and their corres...
To describe a case of optic nerve (ON) anomaly and retinal detachment with extensive subretinal silicone oil after repair of retinal detachment. A three-generation family history of ON anomaly, two ge...
Neonatal hydrometrocolpos (HMC) is a rare Mullerian duct anomaly with an incidence of 0.006%. It occurs due to blockage of the vagina with accumulation of mucus secretions proximal to the obstacle. Th...
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...
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...
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 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 ...
Infants with congenital long QT syndrome (LQTS) and 2:1 atrioventricular block (AVB) have been recognized as a clinical subset of children with LQTS. The purpose of this study is to descr...
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.