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Anisocoria,abnormal pupillary reflex and multiple arthrogryposis in a case of multiple abnormalities syndrome Yuriko Ban 1 , Yoshiki Katsumi 2 , Yukari Sugiyama 2 , Mariko Uchida 1 , Takashi Nakai 1 , Junko Tsujimoto 1 1Dept of Ophthalmol,Nantan Gen Hosp 2Dept of Pediatr,Nantan Gen Hosp pp.743-747
Published Date 2010/5/15
DOI https://doi.org/10.11477/mf.1410103187
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Abstract. Purpose:To report a case of multiple abnormalities syndrome with anisocoria and pupillary reflex defect. Case:A 4-month-old male infant presented with micrognathia,saddle nose,multiple arthrogryposis of upper and lower limbs,micropenis,club foot and scaphoid foot since birth. The pupils were round and centered. Iris pattern was normal. The pupil diameter was 3.5 mm right and 2.5 mm left. Light reflex was absent. No abnormality was present in the anterior and posterior segment. Both eyes showed normal electroretinogram(ERG). Visually evoked response was weaker from the right occipital lobe than that from the left. The child is now 3 years old. The right eye shows weak light reflex and the left eye shows no light reflex. Conclusion:This case is presumed to be cerebro-oculo-facio-skeletal syndrome type 1 which is an instance of multiple abnormalities syndrome including multiple arthrogryposis and pupillary disorders.


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電子版ISSN 1882-1308 印刷版ISSN 0370-5579 医学書院

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