MACROSOMIA, OBESITY, MACROCEPHALY AND OCULAR ABNORMALITIES (MOMO SYNDROME) IN 2 UNRELATED PATIENTS - DELINEATION OF A NEWLY RECOGNIZED OVERGROWTH SYNDROME

We describe 2 unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics: macrocrania, obesi ty, ocular abnormalities (retinal coloboma and nystagmus), downward sl ant of palpebral fissures, mental retardation, and delayed bone matura tion. Both cases are of sporadic occurrence with no consanguinity betw een the parents. We suggest that this syndrome is due to a new autosom al dominant mutation and propose to designate it with the acronym of ' 'MOMO syndrome'' (Macrosomia, Obesity, Macrocrania, Ocular anomalities ).