MOMO syndrome
- this exceptionally rare syndrome was first described in 1993
- the case reports described two unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics:
- macrocrania
- obesity
- ocular abnormalities (retinal coloboma and nystagmus), downward slant of palpebral fissures, mental retardation, and delayed bone maturation
- the authors suggested that this syndrome is due to a new autosomal dominant mutation and propose to designate it with the acronym of "MOMO syndrome" (Macrosomia, Obesity, Macrocrania, Ocular anomalities)
- the case reports described two unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics:
Reference:
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