Abstract
Background The Kabuki syndrome (KS) is a rare genetic, hereditary, autosomic dominant, multiple anomaly syndrome, with an estimated incidence around 1-2/ 100 000 worldwide. Not all of the affected individuals have the same malformations. Five major criteria delineate KS: postnatal short stature, skeletal anomalies, moderate mental retardation, dermatoglyphic anomalies, characteristic facial dysmorphism [1].
Highlights
The Kabuki syndrome (KS) is a rare genetic, hereditary, autosomic dominant, multiple anomaly syndrome, with an estimated incidence around 1-2/ 100 000 worldwide
Is the Kyphosis in our patient a characteristic of the Kabuki Syndrome? Is it a consecuence of the Growth Hormone therapy our patient followed for 24 month for the short stature? Or is it a Scheuermann Disease accidentaly associated with the Kabuki syndrome?
Case report We present the case of a 14 year girl diagnosed of the KS, refered to the Rehabilitation Service for kyphoscoliosis
Summary
Case report of an adolescent girl with Kabuki syndrome and kyphoscoliosis, resistant at the conservative orthopedic treatment. From 8th International Conference on Conservative Management of Spinal Deformities and SOSORT 2011 Annual Meeting Barcelona, Spain. 19-21 May 2011
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
