伯-韦综合征 - 百度百科
伯-韦综合征(Beckwith-Wiedemann syndrome)即突脐、巨舌、巨体综合征(exomphalos-macroglossia-gigantism syndrome) ， 亦称EMG 综合征、WiedemannⅡ型综合征、Wilm 瘤和半身肥大综合征、Beckwith 综合征、新生儿低血糖巨内脏巨舌小头综合征(neonatal hypoglycemia visceromegaly macroglossia microcephaly ...
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Beckwith–Wiedemann syndrome - Wikipedia
Beckwith–Wiedemann syndrome (/ ˈ b ɛ k ˌ w ɪ θ ˈ v iː d ə. m ə n /; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (<15%) of cases of BWS are familial, meaning that a close relative may also have BWS, and parents ...
Beckwith-Wiedemann syndrome - Children's Hospital of Philadelphia
What is Beckwith-Wiedemann syndrome? Beckwith-Wiedemann syndrome is a genetic disorder commonly characterized by overgrowth. The severity of this disorder varies widely in children and is usually recognized at birth, when a child is born with several features of …
Beckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf
2000年3月3日 · Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia (persistent hypoglycemia or transient hypoglycemia due to hyperinsulinemia), macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly ...
Beckwith-Wiedemann syndrome - MedlinePlus
Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are larger than normal (macrosomia), and some may be taller than their peers during childhood.
Beckwith-Wiedemann Syndrome - StatPearls - NCBI Bookshelf
2024年1月7日 · Beckwith-Wiedemann syndrome (BWS) is the most common congenital overgrowth syndrome. Specifically, the condition is a human imprinting disorder caused by genetic and epigenetic changes affecting molecular regulation on chromosome 11p15. The most notable BWS features are hemihypertrophy, macrosomia, macroglossia, and abdominal wall defects.
Beckwith-wiedemann syndrome | About the Disease | GARD
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.
貝克威思-威德曼症候群 - 维基百科，自由的百科全书
貝克威思－威德曼症候群 （英語： Beckwith–Wiedemann syndrome）是一種先天過度生長的疾病，通常患者在出生前即已有可能發生過度生長的情形，出生後可能發生新生兒 低血糖，並伴隨有 巨舌 、內臟腫大、半邊肥大等病症，耳朵上會出現特殊的摺痕及小凹陷。 其發生率為1/13700，經 人工生殖技術 出生的嬰兒比例較高。 遺傳方面，其遺傳方式為未知，因近85%的病患都是無家族史的偶發案例。 罕見遺傳疾病一點通.
Beckwith-Wiedemann syndrome - PubMed
Beckwith-Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate o …