Diko : en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750)

en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C2675641

Associations d'idées

[F]

›

50+

en:variable age of onset (range 4 months to 45 years)

•

en:severe ambulatory restriction

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en:slight male predominance (3:2)

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en:possible x-linked dominant inheritance

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en:sensorineural hearing loss may be presenting feature

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en:some patients show improvement during summer or with fever

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en:some patients have resolution of symptoms in first year of life

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en:variable phenotype, particularly with regard to cortical malformations

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en:virtually all patients with this condition are female

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en:poor response to l-dopa

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en:prevalence of true hypoprothrombinemia is 1 in 2 million

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en:precipitated by fatigue or alcohol

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en:sudden death within first days of life

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en:variable age at onset, first to second decades

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anomalie congénitale

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en:variable age of onset (7-59 years)

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en:visual impairment is present at birth and is progressive

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en:some patients may not present until adulthood

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en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia

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en:prevalence estimated at 1 in 50,000

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en:variable expression

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en:skeletal and facial features are variable

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en:symptoms precipitated by stress, exertion, fatigue, alcohol

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en:some patients with advanced loss of vision have normal eog

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en:subtype 3a comprises myoclonus and dementia

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en:prelingual onset

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en:precipitated by general anesthesia

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en:some patients may present with myopathic features

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en:congenital abnormality

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en:syncope ▷?

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en:some patients may show a favorable response to oral coenzyme q10 supplementation

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en:usually symptomatic in adulthood with history of weakness since infancy or childhood

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en:some patients show a favorable response to sulfonylurea treatment

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en:presence of additional features is variable

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en:some patients may lose independent ambulation

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en:premature aging syndrome

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en:arthralgia

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en:small placenta

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en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation

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en:subset of patients have leigh syndrome (256000)

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en:some patients never gain ambulation or become wheelchair-bound

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en:precipitated by fever

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en:prevalent among the amish

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en:phenotypic variation (may affect language expression, reception, and/or articulation)

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en:progressive clinical course with onset in childhood

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en:short survival (less than 10 years after onset)

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en:six patients have been reported (as of october 2011)

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en:variable features present

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en:variable age at onset (late childhood to adult)

▶

‹

50+

anomalie congénitale

•

en:congenital abnormality

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malformation congénitale

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en:congenital anomaly

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en:congenital defect

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déformation congénitale

•

déficience congénitale

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septicémie du nouveau-né

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septicémie néonatale

•

en:neonatal sepsis

•

maladie congénitale

•

pathologie congénitale

•

difformité congénitale

•

mort du nouveau-né

•

mort néonatale

•

en:neonatal death

•

en:arthralgia

•

douleur dans une articulation

•

algie articulaire

•

arthralgie

•

douleur articulaire

•

en:congenital malformation

•

en:birth defect

•

polyhydramnios

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en:polyhydramnios

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en:joint pain

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tare congénitale

•

en:broad-based gait

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élargissement du polygone de sustentation

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vice de conformation

•

en:wide-based gait

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anomalie du développement

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en:stokes-adams syndrome

•

en:physical defect

•

en:teratosis

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en:Stokes-Adams syndrome

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en:major physical defect

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en:fatal without lung transplant

•

en:independent ambulation is maintained

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en:maternal oligohydramnios

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en:majority of patients have normal intelligence

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en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders

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en:onset usually in childhood or adolescence

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en:mean survival 5 months

•

en:may be asymptomatic

•

en:may be due to imprinting defect

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en:many cases due to de novo mutation

•

en:high mortality in infancy and early childhood (in some patients)

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en:infections may precipitate ketotic episodes

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en:incidence 1/100,000 - 1/200,000 live births

▶

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6942361 • caches: c1=20 c2=157 c3=1718

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