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Omer Onbas,Cihangir Aliagaoglu,Cagatay Calikoglu,Mecit Kantarci,Mustafa Atasoy,Fatih Alper 대한영상의학회 2006 Korean Journal of Radiology Vol.7 No.1
Neurofibromatosis type 1 disease is characterized by pigmented cutaneous lesions and generalized tumors of a neural crest origin and it may affect all the systems of the human body. Sphenoid dysplasia is one of the characteristics of this syndrome and it occurs in 5-10% of the cases; further, abnormalities of the sphenoid wings are often considered pathognomonic. However, complete agenesis of a sphenoid wing is very rare. We report here on an unusual case of neurofibromatosis type 1 disease with the associated absence of a sphenoid wing that was diagnosed by using multidetector computed tomography.
Prenatal MRI Findings of Polycystic Kidney Disease Associated with Holoprosencephaly
Mustafa Koplay,Omer Onbas,Fatih Alper,Bunyamin Borekci 대한영상의학회 2009 Korean Journal of Radiology Vol.10 No.3
Holoprosencephaly (HPE) and polycystic kidney disease (PKD) are genetically heterogeneous anomalies which can make up part of various syndromes or chromosomal anomalies. Due to the rapid lethality prognosis, early and precise prenatal diagnosis would be of great value. This case report describes extensive PKD involvement, already present in utero, in a patient with HPE and subdural effusion visible by MR imaging. The detailed anatomic information obtained by the MR imaging can guide the surgical planning and can aid antenatal counseling.