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Case Reports
. 2010 Aug;32(7):574-8.
doi: 10.1016/j.braindev.2009.07.008. Epub 2009 Aug 22.

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient

Monika Bekiesinska-Figatowska  1 , Hanna Mierzewska, Arleta Kuczynska-Zardzewialy, Elzbieta Szczepanik, Ewa Obersztyn
Affiliations
Case Reports

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient

Monika Bekiesinska-Figatowska et al. Brain Dev. 2010 Aug.

Abstract

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.

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