Primary hypothyroidism and osteopenia associated with Neuhauser syndrome

被引：6

作者：

Sarkozy, A

Mingarelli, R

Brancati, F

Dallapiccola, B

机构：

[1] Ist CSS Mendel, I-00198 Rome, Italy

[2] Univ Roma La Sapienza, Dept Mol Med & Pathol, Rome, Italy

[3] IRCSSCSS, San Giovanni Rotondo, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 111卷 / 04期

关键词：

Neuhauser syndrome; megalocornea-mental retardation; MMR; hypothyroidism;

D O I：

10.1002/ajmg.10577

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a patient affected by Neuhauser megalocornea-mental retardation (MMR) syndrome, presenting with most of the major manifestations of this disorder, in association with primary hypothyroidism and osteopenia. These symptoms, previously reported in single patients, could be discrete features of MMR syndrome. (C) 2002 Wiley-Liss, Inc.

引用

页码：412 / 414

页数：3

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