Kabuki make-up 综合征(KMS)是一组多发性畸形,1967年首次由日本的 Niikawa 等人描述,并于1981年正式报道.本病目前世界上共报道70余例.最小患儿年龄仅为2个月,最大患者年龄为43.5岁.本病在日本的发病率约为出生新生儿的1:32000,尽管也有报道在白人和黑人也出现了此病,但目前看来除日本之外本病在世界其它地方...
Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency N Niikawa,N Matsuura,Y Fukushima,... 被引量: 0发表: 1981年 A score based on eight signs in the diagnosis of Down syndrome in the newborn Experience with a ...
We report the second case of Kabuki make-up syndrome in a non-mixed black male. He is a 5 year old with growth deficiency in the first four years of life, which progressed to a low-normal percentile. He has moderate developmental delays, speech problems, some hyperactivity, mannerisms ...
Kabuki make-up syndrome in a Caucasian A 20-year-old Caucasian female with the Kabuki make-up syndrome had adolescent onset cataracts and delayed sexual maturation with evidence of primary ovari... Roberta,A.,Pagon,... - 《Ophthalmic Genetics》 被引量: 44发表: 1986年 Kabuki make-up (Niika...
Autosomal dominant. Simplex cases make up the vast majority of the reported cases withKabuki syndrome(de novomutations). Aetiology – Molecular Basis – Gene Kabuki syndrome-1 (KABUK1) is caused by mutations inMLL2(12q13.12), a gene that encodes a Trithorax-group histone methyltransferase, a ...
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Kabuki make-up syndrome was first reported in 1981 by Kuroki, et al and Niikawa, et al. Characteristic facial features which resembled the make-up used in facial Kabuki actors. The characteristic facial findings consist of long palpebral fissures, high eyebrows with sparseness of the lateral half...
The astral sphere make-up on Bowie’s forehead was designed by Laroche for the Ziggy Stardust persona. Ziggy’s make up on stage also had a lot of Kabuki influences. David Bowie, rare outtake from Aladdin Sane photo session by Brian Duffy, 1973 ...
摘要: Although susceptibility to infections in Kabuki make-up syndrome (KMS) has frequently been reported, there have been few immunological studies. We describe a 14 year old girl with KMS exhibiting chronic idiopathic thrombocytopenic purpura (chronic ITP), including immunological studies.关键词:...
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