title: 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.affiliation: Department of Pediatrics, Genetics Service, Joseph M. Sanzari Children's Hospital, Hackensack, University Medical Center, Hackensack, New Jersey, USA.
authors.forename: Robert
authors.initials: R
authors.lastname: Wallerstein
authors.forename: Rachel D
authors.initials: RD
authors.lastname: Sugalski
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000365:Age Determination by Skeleton; D002648:Child; D002658:Developmental Disabilities / Q000473:pathology; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000473:pathology; D019066:Facies; D005269:Femur / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D009765:Obesity / Q000473:pathology; D013577:Syndrome