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Unilateral cleft lip in a boy with Angelman syndrome
O Rösby1, P Strömme, M Sandsmark
1Department of Medical Genetics, Ullevål University Hospital, University of Oslo, Norway.
Journal of Craniofacial Genetics and Developmental Biology
|April 1, 1996
Summary
This study confirms Angelman syndrome in a boy with seizures and developmental delay via genetic testing. A rare unilateral cleft lip was also identified, expanding the known features of this genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Angelman syndrome is a rare genetic disorder characterized by intellectual disability, seizures, and developmental delays.
- The genetic basis of Angelman syndrome typically involves deletions or mutations on chromosome 15q11-13.
- Clinical presentations can vary, but certain features are commonly observed.
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