Результаты поиска

...nital ocular, muscular, and heart abnormalities. It was first described in the children of a [[Consanguinity|consanguineous]] couple,<ref>{{Cite web |titl ...eb |title=Anophthalmia megalocornea cardiopathy skeletal anomalies - About the Disease - Genetic and Rare Diseases Information Center |url=https://raredis ...

...nt in both eyes. Microcornea and iridocorneal dysgenesis also occur. The [[retina]] and [[optic disc]] are normal.{{cn|date=November 2020}} The cause of this condition is not presently known. It appears to be inherited ...

...= James W, Berger T, Elston D | date = 2005 | title = Andrews' Diseases of the Skin: Clinical Dermatology | edition = 10th | publisher = Saunders | isbn = ...d by the ipsilateral appearance of facial [[vitiligo]] and [[poliosis]] is the hallmark of Alezzandrini syndrome.<ref name="medscape">{{cite journal | las ...

...eal dystrophy|corneal lattice dystrophy]], some of the affected members of the Iranian family have retinitis pigmentosa.<ref name="Shokouhi"/><ref name="A [[Category:Syndromes affecting the retina]] ...

| synonyms = Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes, Cerebrofacial arteriovenous metameric synd ...m/article/S0896-1549(04)00088-4/fulltext}}</ref> When the syndrome affects the brain, people can experience severe headaches, seizures, acute stroke, [[me ...

...description|Set of signs and symptoms that are associated with lesions of the optic chiasm}} ...cation of the lesion along the [[optic nerve]]. [[Pituitary adenoma]]s are the most common cause; however, chiasmal syndrome may be caused by [[cancer]], ...

...luding digenic recessive); but [[epigenetic]] phenomena also cause some of the variation seen in BBS. ...systems. It is characterized by [[Rod dystrophy|rod/cone dystrophy]],<!-- the source calls it "rod/cone dystrophy", but does indicate that simple RP is a ...

...}}</ref> It is an inherited (genetic) disorder that affects many parts of the body. ...d progressive vision loss. Some have a gap or split in the colored part of the eye (iris coloboma).<ref name=DonBar-NLM/><ref name=NLM-ref-don-bar/> ...

The exact gene loci has not been characterized. ...esis of recessive cystic kidney disease also belong to a common pathway in the primary [[cilium]] of kidney cells." ...

| caption = One side of the image is clear and the other side is blurred depicting how a patient with Irvine-Gass syndrome vie ...r=Straatsma, Bradley R.|title=S. Rodman Irvine, MD|journal=Transactions of the American Ophthalmological Society|year=2000|volume=98|pages=9–10|pmc=1298 ...

{{Short description|Medical condition affecting movement coordination}} ...|title=dysmetria – definition of dysmetria in the Medical dictionary – by the Free Online Medical Dictionary, Thesaurus and Encyclopedia. }}</ref> ...

...d physical, mental, and sexual development, and cardiac murmur | journal = The Journal of Pediatrics | volume = 86 | issue = 1 | pages = 63–71 | date = ...h BM, Baker A, Houwen R, Todorova L, Kerkar N | title = Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome | journal = ...

...Knowledge Base |publisher=[[National Board of Health and Welfare (Sweden)|The National Board of Health and Welfare (Sweden)]] |language=sv}}</ref> ..., examination by ophthalmologist is indicated early in life. Problems from the gastrointestinal tract are frequent. In adulthood, continued habilitation e ...

...e=4 |pages=363–70 |year=2005 |pmid=16440878 }}</ref> Fryns (1987) reviewed the syndrome.<ref>{{cite journal |author=Fryns JP |title=Fryns syndrome: a vari ...elian syndrome and have no significance as to the location of the gene for the recessive disorder.{{citation needed|date=November 2020}} ...

...dipose tissue]] (shown in white) in a patient with Alström syndrome; hence the difficulty in imaging by [[echocardiography]] It is caused by mutations in the gene ''[[ALMS1]]'', which is involved in the formation of cellular [[Cilium|cilia]], making Alström syndrome a [[ciliop ...

| caption = Autosomal dominant is the manner in which this condition is inherited ...tem]] leading to disorder and a decrease or loss of function to regions of the body.<ref name="pat">{{Cite web|url=http://patient.info/doctor/autosomal-do ...

..., [[Wernicke's area]] (a.k.a. Wernicke's Speech Area) has been named after the scientist. ...a school near the university of Breslau. Wernicke then studied medicine at the University of Breslau and did graduate work studying language and aphasia a ...

...ournal |vauthors=Novo S, Lunetta M, Evola S, Novo G |title=Role of ARBs in the blood hypertension therapy and prevention of cardiovascular events |journal == Complications affecting the heart == ...

...ite journal | vauthors = Bassen FA, Kornzweig AL | title = Malformation of the erythrocytes in a case of atypical retinitis pigmentosa | journal = Blood | ...g in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of [[chylomicrons]] and [[VLDL]] respectively. It ...

...of nerve damage associated with [[diabetes mellitus]]. Symptoms depend on the site of nerve damage and can include motor changes such as weakness; sensor ...n cause a range of symptoms. There are several distinct syndromes based on the organ systems affected.{{citation needed|date=July 2021}} ...