Horseshoe kidney, also known as renal fusion, is a congenital disorder affecting about 1 in 400 people[1]. In this disorder, the patient's kidneys fuse together to form a horseshoe-shape during development in the womb.
Fusion abnormalities of the kidney can be categorized into two groups: horseshoe kidney and crossed fused ectopia. The horseshoe kidney is the most common renal fusion anomaly.
Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue.
It is sometimes inherited as a dominant trait. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1.People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan's. This syndrome can run from mild to severe.
People with Marfan's are typically tall, with long limbs and long thin fingers.
The most serious complications are the defects of the heart valves and aorta. It may also affect the lungs, eyes, the dural sac surrounding thespinal cord, skeleton and the hard palate.
In addition to being a connective protein that forms the structural support for tissues outside the cell, the normal fibrillin-1 protein binds to another protein, transforming growth factor beta (TGF-β). TGF-β has deleterious effects on vascular smooth muscle development and the integrity of the extracellular matrix. Researchers now believe that secondary to mutated fibrillin there is excessive TGF-β at the lungs, heart valves, and aorta, and this weakens the tissues and causes the features of Marfan syndrome. [4]Since angiotensin II receptor blockers (ARBs) also reduce TGF-β, they have tested this by giving ARBs (losartan, etc.) to a small sample of young, severely affected Marfan syndrome patients. In some patients, the growth of the aorta was indeed reduced.
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DefinitionAcrodysostosis is an extremely rare disorder that is present at birth (congenital). People with this condition have problems in the bones of the hands, feet, and nose, and mental retardation.
Most patients with acrodysostosis have no family history of the disease. However, sometimes the condition is passed down from parent to child. Parents with the condition have a 1 in 2 chance of passing the disorder to their children.
There is a slightly greater risk with fathers who are older.
A physical exam confirms this disorder.
Findings may include:
In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have:
Treatment depends on the physical and mental problems that occur.
Orthopedic care, early intervention, and special education are recommended.
Problems depend on the degree of skeletal involvement and mental retardation. In general, patients do relatively well.
Call your health care provider if your child seems to be growing or developing slowly or abnormally, or if you notice physical abnormalities in your infant.
Consider genetic counseling to help with diagnosis, testing, and identifying risk.
Giant appendicular schwannoma in a child in Indian Journal Pathology Microbiology - 52(2), april-june 2009
A case report on Acute pancreatitis: a rare cause of acute abdomen in pregnancy Volume 279, Number 4 / April, 2009 published in Springer Journal: Archives of Gynecology and Obstetrics
Obstructive anuria due to blood clot : Volume 278, Number 4 / October, 2008 published in Springer Journal : Archives of Gynecology and Obstetrics
A Case Report on Testicular granulosa cell tumor, adult type :Year : 2008 | Volume : 51 | Issue : 3 |Page : 405-406 published in 2008 Indian Journal of Pathology and Microbiology
Adrenal angiomyolipoma: A rare entity Indian Journal of Urology in July-Sept 2007
A case report on Ovarian actinomycosis in absence of intrauterine contraceptive device: an unusual presentation published in Wiley Interscience in 2002:
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Dr. Pardasani has worked as a visiting neurologist at the King's College Hospital, London, where he was actively involved in the evaluation and management of difficult-to-treat epilepsy patients. He has been the forerunner in the organisation of several public awareness programmes for common neurological disorders such as stroke, epilepsy and Parkinsonism.
His areas of research include functional MRI in autism, chronotypes and sleep-wakefulnesspatterns in young adults and functional stimulation in lesion-negative refractory epilepsy. He has many international and national publications to his credit. Dr. Pardasani is a member of Indian Academy of Neurology, the Neurological Society of India and the Indian Epilepsy Society.
