Familial occurrence of a syndrome with mental retardation,nasal hypoplasia,peripheral dysostosis,and blue eyes in Japanese siblings |
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| Authors: | N Niikawa I Matsuda T Ohsawa T Kajii |
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| Institution: | (1) Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan;(2) Department of Pediatrics, Kumamoto University Medical School, Kumamoto, Japan;(3) Department of Radiology, Jichi Medical College, Tochigi, Japan;(4) Department of Pediatrics, State University of New York, Upstate Medical Center, Syracuse, New York, USA |
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| Abstract: | Summary Two Japanese siblings, a 2-year-old girl and a 7-month-old boy, had a syndrome of mental retardation, severe nasal hypoplasia, peripheral dysostosis, and blue eyes. The mother showed nasal hypoplasia of lesser degree and a mild form of peripheral dysostosis. This disorder bears a striking similarity to acrodysostosis, but in view of certain novel features its relationship to the disease is uncertain. The mode of inheritance could be either dominant with variable expressivity or autosomal recessive. |
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