MOMO syndrome: a possible third case.

Abstract

This report describes a 5-year-old girl, mildly mentally retarded, with the following characteristics: macrocephaly; severe obesity; ocular abnormalities (right optic disk coloboma and left choroidal coloboma); short stature; and recurvation of the femur. The case is sporadic with no consanguinity between the parents. The condition was diagnosed tentatively as MOMO syndrome (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) (MIM, 157980), because of the presence of short stature, in contrast with the large stature 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.

• Authors: R Zannolli, R Mostardini, T Hadjistilianou, A Rosi, R Berardi, G Morgese
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 9 Issue 4 Pg. 281-4 (Oct 2000) ISSN: 0962-8827 [Print] England
• PMID: 11045586 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (pathology)
• Body Height
• Child, Preschool
• Coloboma (pathology)
• Female
• Femur (abnormalities)
• Humans
• Intellectual Disability (pathology)
• Obesity (pathology)
• Syndrome