髓鞘形成不全、低促性腺激素性性腺功能减退、牙发育不全——首例波兰患者。
Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.
作者信息
Bekiesinska-Figatowska Monika, Mierzewska Hanna, Kuczynska-Zardzewialy Arleta, Szczepanik Elzbieta, Obersztyn Ewa
机构信息
Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland.
出版信息
Brain Dev. 2010 Aug;32(7):574-8. doi: 10.1016/j.braindev.2009.07.008. Epub 2009 Aug 22.
The term 4H was suggested for the rare, novel entity with hypomyelination, hypogonadotropic hypogonadism and hypodontia. A combination of clinical findings with ataxia and endocrinological abnormalities, brain MRI and dentition history are crucial for the diagnosis. We present the first Polish patient with this disease with repeated brain MRI, MRI of the pituitary gland and orthopantomogram.
术语“4H”是为一种罕见的新病症提出的，该病症具有髓鞘形成不足、低促性腺激素性性腺功能减退和牙发育不全的特征。结合共济失调和内分泌异常的临床发现、脑部磁共振成像（MRI）以及牙列病史对于诊断至关重要。我们展示了首例患有该疾病的波兰患者的多次脑部MRI、垂体MRI和曲面断层全景片。
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