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伴有唇腭裂的歌舞伎综合征(新川-黑木综合征)

Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate.

作者信息

Handa Y, Maeda K, Toida M, Kitajima T, Ishimaru J, Nagai A, Oka N

机构信息

Dept. of Oral and Maxillofacial Surgery, Gifu University School of Medicine, Japan.

出版信息

J Craniomaxillofac Surg. 1991 Apr;19(3):99-101. doi: 10.1016/s1010-5182(05)80570-0.

DOI:10.1016/s1010-5182(05)80570-0
PMID:2071696
Abstract

Kabuki make-up syndrome (Niikawa-Kuroki syndrome), recognized in Japan in 1981, is characterized by mental and growth retardation with specific craniofacial malformation such as lower palpebral eversion and depressed nasal tip. In this paper we describe a case associated with cleft lip and palate. Attention should be paid by maxillofacial surgeons to this syndrome, since 41% of the cases have been associated with cleft lip and palate (Niikawa et al., 1988; Tonoki and Niikawa, 1988).

摘要

歌舞伎综合征(新川-黑木综合征)于1981年在日本被发现,其特征为智力和生长发育迟缓,并伴有特定的颅面畸形,如下睑外翻和鼻尖凹陷。本文描述了1例伴有唇腭裂的病例。颌面外科医生应关注该综合征,因为41%的病例与唇腭裂有关(新川等人,1988年;户野木和新川,1988年)。

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Characteristics and surgical outcomes of cleft palate in kabuki syndrome: a case series of 11 patients.歌舞伎综合征腭裂的特征和手术结果:11 例病例系列。
BMC Pediatr. 2021 Sep 3;21(1):379. doi: 10.1186/s12887-021-02852-4.
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Success or failure of endodontic treatments: A retrospective study.牙髓治疗的成败:一项回顾性研究。
J Conserv Dent. 2019 Mar-Apr;22(2):129-132. doi: 10.4103/JCD.JCD_507_18.
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Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl.一名土耳其女孩患歌舞伎综合征和外侧裂周围皮质发育异常
J Pediatr Neurosci. 2013 Sep;8(3):259-60. doi: 10.4103/1817-1745.123710.
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A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.SOX3 多聚丙氨酸区的一种新突变:MLL2 和 SOX3 双突变致联合垂体激素缺乏的卡布列综合征一例。
Pituitary. 2014 Dec;17(6):569-74. doi: 10.1007/s11102-013-0546-5.
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Hypothalamic pituitary complications in Kabuki syndrome.Kabuki 综合征的下丘脑-垂体并发症。
Pituitary. 2013 Jun;16(2):133-8. doi: 10.1007/s11102-012-0386-8.
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The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.歌舞伎(新川-黑木)综合征:29例非日本患者的表型进一步描述。
Eur J Pediatr. 1994 Jun;153(6):438-45. doi: 10.1007/BF01983409.