[Coffin Lowry syndrome: a case report and review of the literatures]

ABSTRACT

Coffin Lowly Syndrome is a rare form of X-linked dominant mental retardation. Male affected patients show profound mental retardation. However, intellect ranges from normal to profoundly retarded in heterozygous females. The facial appearance is characterized by coarse face, hypertelorism, down slanting palpebral fissures, hyperplastic supraorbital ridges, broad nose with anteverted nares, prominent ears, and everted lower lips. In this article, we report a 1 5-year-old male with severe mental retardation, short stature, microcephaly, kyphoscoliosis, and characteristic feature