• Kabuki syndrome as the cause of genetically determined delay of movement and mental development and autism spectrum disorders

Kabuki syndrome as the cause of genetically determined delay of movement and mental development and autism spectrum disorders

PERINATOLOGIYA I PEDIATRIYA. 2017.1(69):103-108; doi 10.15574/PP.2017.69.103

Kabuki syndrome as the cause of genetically determined delay of movement and mental development and autism spectrum disorders

Kyrylova L., Yuzva O., Miroshnykov O., Radzihovska O.
SI «Institute of Pediatrics, Obstetrics and Gynecology of NAMS of Ukraine», Kyiv

The National Children Specialized Hospital «OHMATDET», Kyiv, Ukraine

Kabuki syndrome is a rare non+progressive genetic disease and characterized by a combination of phenotypic traits. The main symptoms of the pathology are facial features that resemble the make-up of Kabuki actors, mental retardation, delay of speech and movement development, postnatal growth retardation, skeletal abnormalities, dermatoglyphic features, and can also be symptoms of autism spectrum disorder. Patients with this disease can attract attention of pediatricians, as well as others specialists such as neurologists, psychiatrists, orthopedists, endocrinologists. Herein we presented the case that illustrates the diagnostic complexity of autism spectrum disorder in children. Autism spectrum disorder in most cases can occur in the structure of genetic syndromes or other rare diseases. A detailed examination of the child with symptoms of autism spectrum disorder can help in establishing the correct diagnosis, tactics of follow+up and patient rehabilitation.

Key words: Kabuki syndrome, orphan disease, autism spectrum disorder, delay of movement and mental development.


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