Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Wildervanck syndrome is a combination of congenital anomalies characterized by deafness, Klippel-Feil deformity, and an unusual ocular motility disturbance called Duane retraction syndrome. This syndrome is seen infrequently in the general population and may not be recognized since the external appearance of the ears may be normal, and the unusual form of strabismus may not be obvious to the non-ophthalmologist. Patients with the full extent of this triad have a unique appearance. CT examination in these patients delineates the cervical anomalies as well as the inner ear deformity.
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PMID:Wildervanck syndrome--the external appearance and radiologic findings. 648 Feb 41

The differentiation of haemangiomas and vascular malformations is histological, clinical and prognostic. Although the majority of haemangiomas evolve towards spontaneous resolution, as many as 10% of cases can develop complications with ulceration, pain and haemorrhaging. Besides, the localisation of haemangiomas in the head and neck, next to vital structures, can compromise their functions. Hence, compression of the airway might be a vital emergency. Periorbital haemangiomas can give rise to amblyopia due to sensory deprivation or due to a restrictive strabismus. Lumbosacral haemangiomas must be studied with Nuclear Magnetic Resonance because of their frequent association with alterations in the midline at the level of the spine, anus, genitals or kidneys. Amongst visceral haemangiomas, hepatic haemangiomas are the most serious due to their association with congestive cardiac insufficiency. The association of extensive facial haemangiomas with anomalies of the central nervous system, vascular, cardiac, ocular and sternal anomalies, is denominated PHACE syndrome and is frequently complicated by mental deficiency, convulsions or ictus. Vascular malformations of trigeminal localisation are associated in up to 15% of cases with glaucoma or choroidal or leptomeningeal haemangiomas (Sturge-Weber syndrome). Combined vascular malformations localised in the extremities can become complicated with thrombophlebitis, regional osteolysis and even distant thromboembolisms (Klippel-Treneaunay Syndrome). On the other hand, there is a coagulopathy due to consumption (Kassabach-Merrit Syndrome) that can complicate some vascular tumours such as the Kaposiform haemangioendothelioma and the tufted angioma. Finally, the complications of the treatments employed are reviewed.
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PMID:[Complications in the evolution of haemangiomas and vascular malformations]. 1514 12

"Mirror movements" are an axonal guidance disorder that consists of involuntary contralateral movements that mimic unilateral intentional ones, typically involving the fingers of the hand. They can be isolated or associated with conditions such as Klippel-Feil syndrome, Kallmann syndrome, or congenital hemiplegia. Isolated congenital mirror movements are sometimes caused by autosomal dominant mutation in the genes DCC or RAD51. At least 4 previously reported cases had strabismus, 3 with Moebius syndrome and 1 with Duane retraction syndrome. We report the case of a boy with an unusual incomitant strabismus consistent with orbital dysinnervation and suggest that for some patients with congenital mirror movements the neurological miswiring extends to the orbit, causing congenital cranial dysinnervation disorder.
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PMID:Congenital cranial dysinnervation disorder in a boy with congenital mirror movements. 2583 74

Wildervanck syndrome (WS) combines features of Klippel-Feil syndrome (KFS), sixth nerve palsy, and deafness. This is a case of a 23 year old woman, diagnosed with KFS (a triad of short neck, low posterior hairline and restricted neck movements) at the age of 20 days. The manifestations of the WS in this patient are severe: she has torticollis, and an extremely severe scoliosis. In addition, she is short (-3 SD; parental target height + 0.8SD) and has mixed sensorineural and conductive deafness. She also has ptosis, strabismus and a high myopia. Radiologically, there are multiple coalitions of cervical vertebrae. Intelligence is unaffected (IQ 95), but deafness, strabismus and high myopia forced her early out of school. Karyotype is 46, XX. In brief, this is a patient with severe WS and additional anomalies. Short and/or reduced parental target height is a part of WS.
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PMID:Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS). 2607 92