一名患有II型毛发-鼻-指综合征（TRPS II，朗格-吉迪恩综合征）且生长激素缺乏的女孩身材明显矮小。
Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.
作者信息
Riedl S, Giedion A, Schweitzer K, Müllner-Eidenböck A, Grill F, Frisch H, Lüdecke H-J
机构信息
Pediatric Department, Medical University Vienna, Vienna, Austria.
出版信息
Am J Med Genet A. 2004 Dec 1;131(2):200-3. doi: 10.1002/ajmg.a.30374.
We report on a 10-year-old girl with tricho-rhino-phalangeal syndrome type II (TRPS II) and pronounced short stature (-4.8 SD). The patient has an interstitial chromosome 8q24.1 deletion of 12-15 Mb. The deletion spans all genes from CSMD3 to at least ANXA13 including the TRPS1 and EXT1 genes, which are responsible for the TRPS II phenotype. In addition to the features of TRPS II, the patient had growth hormone (GH) deficiency with diminished response in three stimulation tests. Therapy with 0.2 mg GH/kg/week led to an increase of growth velocity from 2.5 to 6.6 cm/year. To our knowledge, such a combination of TRPS II and GH deficiency has not yet been described.
我们报告了一名患有II型毛发-鼻-指综合征（TRPS II）且身材显著矮小（-4.8标准差）的10岁女孩。该患者存在12 - 15 Mb的8号染色体q24.1间质缺失。该缺失跨越了从CSMD3到至少ANXA13的所有基因，包括负责TRPS II表型的TRPS1和EXT1基因。除了TRPS II的特征外，该患者还存在生长激素（GH）缺乏，在三项刺激试验中反应减弱。每周0.2 mg GH/kg的治疗使生长速度从每年2.5厘米增加到6.6厘米。据我们所知，TRPS II与GH缺乏的这种组合尚未见报道。
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