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MICRO syndrome: an entity distinct from COFS syndrome
John M Graham1, Raoul Hennekam, William B Dobyns
1Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, SHARE's Child Disability Center, UCLA School of Medicine, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA. John.graham@cshs.org
American Journal of Medical Genetics. Part A
|June 25, 2004
Summary
MICRO syndrome is a rare genetic disorder causing congenital microcephaly, microcornea, and cataracts. Unlike similar conditions, it features normal nucleotide excision repair (NER) and distinct neurological and MRI findings.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Congenital microcephaly, microcornea, and cataracts can stem from viral infections or autosomal recessive Mendelian disorders.
- MICRO syndrome presents with these features, alongside cortical dysplasia, optic atrophy, severe intellectual disability, hypotonic diplegia, and hypogenitalism.
Purpose of the Study:
- To describe the clinical and diagnostic features of MICRO syndrome.
- To differentiate MICRO syndrome from similar genetic disorders like COFS and Cockayne syndrome.
Main Methods:
- Clinical observation of three sibling pairs with MICRO syndrome.
- Evaluation of nucleotide excision repair (NER) in cultured fibroblasts.
- Magnetic Resonance Imaging (MRI) analysis of brain structure.
Main Results:
- Patients exhibited congenital microcephaly, microcornea, cataracts, cortical dysplasia, optic atrophy, and severe intellectual disability.
- NER studies in MICRO syndrome patients were normal, distinguishing it from COFS and Cockayne syndrome.
- MRI revealed frontal polymicrogyria, thin corpus callosum, and cortical atrophy.
Conclusions:
- MICRO syndrome is an autosomal recessive disorder with a distinct clinical profile.
- Normal NER is a key diagnostic feature differentiating MICRO syndrome from COFS and Cockayne syndrome.
- Specific MRI findings aid in distinguishing MICRO syndrome from clinically similar conditions.