Summary
We report on a sporadic case satisfied with a proposed diagnostic criteria for Cohen syndrome. This 10 year-old Japanese boy had truncal obesity, short stature, mild mental retardation, hypotonia, maxillary hypoplasia, micrognathia, narrow hands and feet, high-arched palate, prominent upper central incisors, high nasal bridge, but no pigmentary retinopathy. Autosomal recessive manner of inheritance was suggested by the pedigree.
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Naritomi, K., Chinen, Y. The cohen syndrome: Report of a case. Jap J Human Genet 42, 457–459 (1997). https://doi.org/10.1007/BF02766949
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DOI: https://doi.org/10.1007/BF02766949