Case Report: Potocki-Lupski Syndrome in Five Siblings

• Main Authors: Alina Grama (Author), Claudia Sîrbe (Author), Diana Miclea (Author), Simona Sorana Cǎinap (Author), Delia Huniadi (Author), Bogdan Bulata (Author), Tudor Lucian Pop (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. PTLS is also frequently associated with failure to thrive due to swallowi...