バーク・タバツニック症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- Danish explorer who explored the northern Pacific Ocean for the Russians and discovered the Bering Strait (1681-1741) (同)Vitus Bering, Behring, Vitus Behring
- a stupid person who is easy to take advantage of
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
- (特に男の)まぬけ,とんま
- berylliumの化学記号
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/11/20 12:33:37」(JST)
[Wiki en表示]
Berk–Tabatznik syndrome is a condition with an unknown cause that shows symptoms of short stature, congenital optic atrophy and brachytelephalangy. This condition is extremely rare with only two cases being found.[1]
References
- ^ Bissonnette, Bruno; Luginbuehl, Igor; Dalens, Bernard J., eds. (2006). "Berk–Tabatznik Syndrome". Syndromes: rapid recognition and perioperative implications. New York: McGraw-Hill. p. 94. ISBN 978-0-07-135455-4.
Further reading
- Hartwell, EA; Robinson, LK; Robinson, LH; Aceves, J; Reynolds, James F. (1988). "Congenital optic atrophy and brachytelephalangy: the Berk–Tabatznik syndrome.". American journal of medical genetics 29 (2): 383–9. doi:10.1002/ajmg.1320290220. PMID 3128111.
UpToDate Contents
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English Journal
- Congenital optic atrophy and brachytelephalangy: the Berk-Tabatznik syndrome.
- Hartwell EA1, Robinson LK, Robinson LH, Aceves J.
- American journal of medical genetics.Am J Med Genet.1988 Feb;29(2):383-9.
- Here we report on a prepubertal boy with the Berk-Tabatznik syndrome. Manifestations included short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges. Prognosis was adversely affected by visual and auditory difficulties. The cause of this conditi
- PMID 3128111
★リンクテーブル★
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- 英
- Berk-Tabatznik syndrome
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ベリリウム beryllium
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