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3-M syndrome in two sisters.

I Marik1, O Marikova, M Kuklik

  • 1Ambulant Centre for Defects of Locomotor, Department of Anthropology and Human Genetics, The Faculty of Science, Charles University, Prague, Czech Republic.

Journal of Paediatrics and Child Health
|August 14, 2002
PubMed
Summary

3-M syndrome, a rare genetic growth disorder, presents with prenatal growth restriction and distinct facial features. This report details two sisters with 3-M syndrome, expanding its known characteristics.

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Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • 3-M syndrome is a rare autosomal recessive genetic disorder.
  • It is characterized by prenatal growth restriction, facial dysmorphism, and absence of microcephaly and intellectual disability.

Observation:

  • This report describes two sisters with 3-M syndrome.
  • Their facial features differed slightly from typical presentations.
  • They also exhibited small nails and abnormal dermatoglyphics.

Findings:

  • The clinical presentation of the two sisters expands the known phenotypic spectrum of 3-M syndrome.
  • The findings highlight variability in facial features and introduce nail and dermatoglyphic abnormalities.

Implications:

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  • This expanded understanding aids in more accurate diagnosis and genetic counseling for 3-M syndrome.
  • Further research into the genetic basis and phenotypic variability of 3-M syndrome is warranted.