Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome
Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome
复制标题
DOI：
10.1002/ajmg.a.32348
复制
发表时间：
2008-06-15
影响因子：
2
通讯作者：
Chiarelli, Francesco
中科院分区：
文献类型：
--
作者：
Stagi, Stefano;Bindi, Giuseppe;Chiarelli, Francesco
毛发鼻指综合征（TRPS）是由于染色体8q24.12区域基因的半缺引起的综合征。I型TRPS的特征在于典型的面部特征，包括稀疏、脆且细的毛发、球根鼻和长人中以及骨骼异常。生长迟缓是在这些患者中经常发现的特征，这些患者通常身材矮小;然而，在TRPS患者中仅描述了一例生长激素缺乏症，该患者患有II型TRPS。对骨形态学异常已有研究，但对这类患者骨代谢和骨质量的研究尚不多见。在这份报告中，我们描述了两个病例I型TRPS部分生长激素缺乏症和显着骨量和质量的损害，这是无反应的GH治疗。(C)2008 Wiley-Liss，Inc.
The trichorhinophalangeal syndromes (TRPSs) are syndromes due to halpoinsufficiency of genes in the chromosome 8q24.12 region. Type I TRPS is characterized by typical facial features including sparse, brittle and fine hair, bulbous nose, and a long philtrum, as well as skeletal abnormalities. Growth retardation is a feature frequently found in these patients, who commonly are of short stature; however, only one case with growth hormone deficiency has been described in a TRPS patient and that patient had type II TRPS. Skeletal morphological abnormalities have been Studied, but investigation of bone metabolism and quality in this kind of patients are not available. in this report we describe two cases of type I TRPS with partial growth hormone deficiency and significant bone mass and quality impairment, which was unresponsive to GH treatment. (C) 2008 Wiley-Liss, Inc.