下颌面部发育不全：一名患有下颌面部发育不全的新生儿与一名正常新生儿的比较研究。

Mandibulo-facial dysostosis: comparison study of a neonate with mandibulo-facial dysostosis and a normal neonate.

作者信息

Cannistrá C, Barbet J P, Houette A, Marchese J L, Iannetti G

机构信息

Department of Surgery, C.H.U., Bichat Claude Bernard, Paris, France.

出版信息

J Craniomaxillofac Surg. 1998 Apr;26(2):92-7. doi: 10.1016/s1010-5182(98)80046-2.

DOI:10.1016/s1010-5182(98)80046-2

PMID:9617672

Abstract

Mandibulo-facial dysostosis (MFD) is a malformative syndrome with autosomal dominant transmission and variable expressivity that mainly affects derivatives of the first and second branchial arches. The subsurface anatomy of this condition is still partly unexplored since there have been only four reported dissections of MFD. A detailed dissection of the head and neck of a neonate with MFD is described and compared with a normal neonate. Theories of the pathogenesis are discussed on the basis of these observations.

摘要

下颌面部发育不全（MFD）是一种具有常染色体显性遗传和可变表达性的畸形综合征，主要影响第一和第二鳃弓的衍生物。由于仅有4例MFD的解剖报告，这种疾病的深部解剖结构仍部分未被探索。本文描述了一名患有MFD的新生儿的头颈部详细解剖情况，并与正常新生儿进行了比较。基于这些观察结果讨论了发病机制的理论。