A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis.
A Japanese boy with a hearing deficit, cataracts, mental retardation, and brachycephaly without craniosynostosis is described. We believe that this patient represents a variant of the Fine-Lubinsky syndrome, and is the first report from a racial group other than Caucasian.
Nakane
Takaya
T
Department of Pediatrics, Yamanashi Medical University, Japan. tnakane@res.yamanashi-med.ac.jp
Mizobe
Naoki
N
Hayashibe
Hidemasa
H
Nakazawa
Shinpei
S
D000015:Abnormalities, Multiple / Q000473:pathology*; D002386:Cataract / Q000473:pathology*; D003398:Craniosynostoses / Q000473:pathology; D003638:Deafness / Q000473:pathology*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging