A new case of MOMO syndrome.

Abstract

MOMO syndrome, a condition described in three earlier patients, is a constellation of macrosomia, obesity, macrocephaly, and ocular abnormalities as the main findings. We report a 6-year-old child with these findings as well as significant developmental issues, delayed bone age, clavicular pseudoarthrosis, and straight femurs. We believe that this child should be considered as having MOMO syndrome. Careful consideration of his facial features shows some overlap with Kabuki syndrome. Description of this case may help to better elucidate the clinical features of MOMO syndrome.

• Authors: Robert Wallerstein, Rachel D Sugalski
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 19 Issue 1 Pg. 1-4 (Jan 2010) ISSN: 1473-5717 [Electronic] England
• PMID: 19996736 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (pathology)
• Age Determination by Skeleton
• Child
• Developmental Disabilities (pathology)
• Diagnosis, Differential
• Eye Abnormalities (pathology)
• Facies
• Femur (abnormalities)
• Humans
• Intellectual Disability (pathology)
• Obesity (pathology)
• Syndrome