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MOMO syndrome: a possible third case.

R Zannolli1, R Mostardini, T Hadjistilianou

  • 1Department of Pediatrics, Policlinico Le Scotte, University of Siena, Italy. zannolli@unisi.it

Clinical Dysmorphology
|October 25, 2000
PubMed
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This report details a rare case of MOMO syndrome (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) in a 5-year-old girl. The case presents unique short stature, distinguishing it from previously documented instances of this genetic disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Ophthalmology

Background:

  • MOMO syndrome (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) is a rare genetic disorder.
  • Characterized by overgrowth, obesity, large head circumference, and ocular abnormalities.
  • Previously, only two cases with tall stature have been reported.

Observation:

  • A 5-year-old girl with mild intellectual disability, severe obesity, macrocephaly, and ocular abnormalities (optic disk and choroidal coloboma).
  • She presented with short stature and femoral recurvation, contrasting with previously reported cases.
  • The case was sporadic with no parental consanguinity.

Findings:

  • This represents the third reported case of MOMO syndrome.
  • The presence of short stature in this case expands the known clinical spectrum of MOMO syndrome.

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  • New clinical findings include specific ocular abnormalities and femoral recurvation.

    • Implications:

    • This case highlights the phenotypic variability within MOMO syndrome.
    • Further research is needed to understand the genetic basis and full spectrum of MOMO syndrome.
    • Accurate diagnosis and management of rare genetic disorders are crucial for patient outcomes.