clingenblog
smith_magenis
A young person with Smith-Magenis syndrome.(OMIM#182290: 17p11.2 microdeletion, disturbed sleep pattern, mental retardation, self-injurious behaviour, developmental delay) Facial features are not highly distictive but changes over time; note short philtrum, bulky philtral pillars, square face and jaws, full cheeks, deep-set eyes, prognathism (late feature). First reject Down syndrome because of similar features.
smith_magenis
A young person with Smith-Magenis syndrome.(OMIM#182290: 17p11.2 microdeletion, disturbed sleep pattern, mental retardation, self-injurious behaviour, developmental delay) Facial features are not highly distictive but changes over time; note short philtrum, bulky philtral pillars, square face and jaws, full cheeks, deep-set eyes, prognathism (late feature). First reject Down syndrome because of similar features.