MOMO syndrome: a possible third case

This report describes a 5-year-old girl, mildly mentally retarded, with the following characteristics: macrocephaly; severe obesity; ocular abnormalit ies (right optic disk coloboma and left choroidal coloboma); short stature; and recurvation of the femur. The case is sporadic with no consanguinity b etween the parents. The condition was diagnosed tentatively as MOMO syndrom e (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) (MIM, 15798 0), because of the presence of short stature, in contrast with the large st ature of the only two previously described cases. It is the third possible example of this rare syndrome to be described in the literature, with some new clinical findings presented. Clin Dysmorphol 9:281-284 (C) 2000 Lippinc ott Williams & Wilkins.