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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.

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。

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