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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
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.
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:
- 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.