X连锁型釉质发育不全的异常表现。

Unusual manifestations in X-linked amelogenesis imperfecta.

作者信息

Lykogeorgos T, Duncan K, Crawford P J M, Aldred M J

机构信息

Division of Child Dental Health, Department of Oral and Dental Science, University of Bristol, UK.

出版信息

Int J Paediatr Dent. 2003 Sep;13(5):356-61. doi: 10.1046/j.1365-263x.2003.00484.x.

DOI:10.1046/j.1365-263x.2003.00484.x

PMID:12924992

Abstract

This paper describes a female with X-linked amelogenesis imperfecta (XAI). This case is unusual in having taurodontism, pulpal calcifications, coronal defects prior to tooth eruption and unerupted teeth. These findings have been reported in some cases of autosomal dominant and autosomal recessive AI but have not previously been documented in XAI.

摘要

本文描述了一名患有X连锁型牙釉质发育不全（XAI）的女性。该病例不同寻常之处在于存在牛牙症、牙髓钙化、牙齿萌出前的冠部缺损以及未萌出的牙齿。这些发现曾在一些常染色体显性和常染色体隐性遗传性牙釉质发育不全（AI）病例中报道过，但此前在X连锁型牙釉质发育不全中尚未有记录。