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口面指综合征:一对母女的病例报告。

The oral-facial-digital syndrome: case report of a mother and daughter.

作者信息

Lipp M J, Lubit E C

机构信息

Department of Dentistry, Beth Israel Medical Center, New York, NY 10003.

出版信息

Cleft Palate J. 1990 Jul;27(3):311-6.

PMID:2372978
Abstract

A case report of a daughter and mother with the oral-facial digital syndrome, type I, is presented. The features were variable between the two cases. The daughter had a previously unreported feature, ridging of the metopic suture. Hand-wrist radiographs of both the patient and mother demonstrated a normal trabeculation pattern, contradicting the suggestion of Anneren et al (1984) that irregular mineralization of the hands is pathognomonic for the OFD I syndrome.

摘要

本文报告了一例患有I型口面指综合征的母女病例。两例患者的症状表现有所不同。女儿有一个此前未报告过的特征,即额缝处有嵴状突起。患者和母亲的手部-腕部X光片显示小梁模式正常,这与安妮伦等人(1984年)提出的观点相矛盾,他们认为手部不规则矿化是I型口面指综合征的特征性表现。

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