Sangermani R, Posani L, Pedrazzini A, Vergnaghi D
Pediatr Med Chir. 1985 Jan-Feb;7(1):147-9.
The authors describe the case of a five-year old girl presenting short stature. The evidence of small hypoplasic nose, of abnormally small hands and feet with typical radiological alterations and psychomotor retardation, leads to the diagnosis of acrodysostosis. Moreover, the endocrinological investigations disclosed a dysequilibrium in the pituitary-thyroid axis, which, to our knowledge, has never been described to date in the syndrome of acrodysostosis.
作者描述了一名身材矮小的5岁女孩的病例。小而发育不全的鼻子、异常小的手脚以及典型的放射学改变和精神运动发育迟缓的证据，提示诊断为肢端发育不全。此外，内分泌学检查发现垂体-甲状腺轴失衡，据我们所知，迄今为止在肢端发育不全综合征中从未有过相关描述。
