Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardationcolon; a possible new MCAsol;MR syndrome

摘要

We present a family with six children of first cousin parents, in which three present with microcephaly, hypertelorism, down-slanting palpebral fissures, ptosis, a broad nasal tip, a short webbed neck, mental retardation and seizures. Two differential diagnosis, the Noonan and the Baraitser-Winter syndrome are discussed. The possibility of the description of a new MCAsol;MR syndrome is raised.