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不明综合征:特殊面容、恒牙严重先天缺牙及早熟性脉络膜钙化。

Unknown syndrome: peculiar face, severe hypodontia of permanent teeth, and precocious choroid calcifications.

作者信息

Pallotta R, Fusilli P

机构信息

Centre for Diagnosis, Prevention and Care of Birth Defects in Children, Department of Medicine, D'Annunzio University, Chieti, Italy.

出版信息

J Med Genet. 1998 May;35(5):435-7. doi: 10.1136/jmg.35.5.435.

Abstract

We describe a mother and her twin daughters affected with severe hypodontia of the permanent teeth, precocious calcification of the choroid plexus, and minor digital anomalies. The presence of inner telecanthus, broad and flattened nasal bridge, mild ocular proptosis, small nose with anteverted nostrils, and slight microretrognathia gives them an unusual appearance. All three affected persons are of normal intelligence.

摘要

我们描述了一位母亲及其双胞胎女儿,她们患有恒牙严重牙缺失、脉络丛早熟钙化和轻微的手指异常。内眦间距增宽、鼻梁宽阔扁平、轻度眼球突出、鼻孔前倾的小鼻子以及轻微的小下颌后缩,使她们具有与众不同的外貌。三位患者智力均正常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0457/1051323/9ebe322cc9d5/jmedgene00234-0083-a.jpg

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