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兄弟姐妹中出现的一种未知综合征,表现为鼻畸形、尖头畸形、鼻泪管发育不全以及上唇对称性囊肿形成:颅骨鼻病。

An unknown syndrome of nose deformity, oxycephaly, aplasia of the nasolacrimal ducts, and symmetrical cyst formation on the upper lip in siblings: craniorhiny.

作者信息

Mindikoğlu A N, Erginel A, Cenani A

机构信息

Department of Plastic and Reconstructive Surgery, University of Istanbul, Türkiye.

出版信息

Plast Reconstr Surg. 1991 Oct;88(4):699-702. doi: 10.1097/00006534-199110000-00023.

DOI:10.1097/00006534-199110000-00023
PMID:1896543
Abstract

An unknown syndrome of oxycephaly, nose deformity, hair growth on the skin at the base of the nose, symmetrical cyst formation on the upper lip, and aplasia of the nasolacrimal ducts in a mother and her three children is presented. This syndrome showed autosomal dominant inheritance. All three children were operated on. Oxycephaly and lip deformity in two of the children and hypertelorism that existed in addition to the other anomalies in the third were all corrected. All corrective surgery was performed during a single session for each child.

摘要

本文报道了一位母亲及其三个孩子所患的一种未知综合征,其特征为尖头畸形、鼻畸形、鼻根部皮肤毛发增生、上唇对称性囊肿形成以及鼻泪管发育不全。该综合征呈常染色体显性遗传。所有三个孩子均接受了手术。其中两个孩子的尖头畸形和唇部畸形以及第三个孩子除其他异常外还存在的眼距过宽均得到了矫正。每个孩子的所有矫正手术均在一次手术中完成。

相似文献

1
An unknown syndrome of nose deformity, oxycephaly, aplasia of the nasolacrimal ducts, and symmetrical cyst formation on the upper lip in siblings: craniorhiny.兄弟姐妹中出现的一种未知综合征,表现为鼻畸形、尖头畸形、鼻泪管发育不全以及上唇对称性囊肿形成:颅骨鼻病。
Plast Reconstr Surg. 1991 Oct;88(4):699-702. doi: 10.1097/00006534-199110000-00023.
2
Two siblings with an unusual nasal malformation: further instances of craniorhiny?两名患有罕见鼻畸形的兄弟姐妹:颅骨鼻畸形的更多病例?
Am J Med Genet A. 2007 Dec 15;143A(24):3290-4. doi: 10.1002/ajmg.a.32026.
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New autosomal dominant branchio-oculo-facial syndrome.
Am J Med Genet. 1987 Aug;27(4):943-51. doi: 10.1002/ajmg.1320270422.
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Teebi hypertelorism syndrome.蒂比两眼间距过宽综合征
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[Fronto-nasal dysplasia (apropos of 4 cases)].
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Endonasal marsupialisation of a congenital intranasal nasolacrimal duct cyst.先天性鼻内鼻泪管囊肿的鼻内袋形术
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A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly.一种新认识的综合征,表现为上下唇双层、眼距过宽、眼睑下垂、睑裂狭小以及第三指屈曲指畸形。
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引用本文的文献

1
Oxycephaly-systematic review, case presentation, and diagnostic clarification.尖头畸形——系统评价、病例报告及诊断澄清
Childs Nerv Syst. 2023 Nov;39(11):3041-3049. doi: 10.1007/s00381-023-06048-2. Epub 2023 Jul 26.
2
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.额鼻发育异常,是由ALX3同源框基因隐性突变引起的额鼻发育不良的一种独特表现。
Am J Hum Genet. 2009 May;84(5):698-705. doi: 10.1016/j.ajhg.2009.04.009. Epub 2009 Apr 30.