A new mutation for Cantu's syndrome

Introduction: Cantu syndrome is one of the rare genetic syndromes. Formally, there are no diagnostic criteria for syndrome, but given characteristic appearance and reproducible features in people with a mutation ABCC9 gene, conventional clinical picture that may suggest diagnosis high probability. This publication presents case study two-week-old female patient who was qualified testing on basis her picture. Whole exome sequencing revealed presence so far unknown human database... Case report: A referred to Neonatal Pathology Unit due dysmorphic order extend diagnosis. Biased family history: child's mother diagnosed hypogonadotrophic hypogonadism suspected Kallman syndrome. The girl very similar - physical examination, following highlights: facial dysmorphia, large, protruding tongue, excessive hair head lumbar region. Due possibility mutations various genes correlating Kallmann Exome Sequencing (WES) commissioned. detection new Arg1116Pro allele. Conclusions: In dimorphic significant it advisable perform molecular tests involving use multigene panel. an uncertain picture, worth performing Sequencing. Cantu's still little-known disease often associated coexistence many serious multi-system diseases. Therefore, crucial make as early possible patient's life immediately provided multidisciplinary medical care.