Craniosynostosis in Kabuki syndrome.

[kabuki syndrome]

Niikawa-Kuroki , or Kabuki syndrome (KS ), is characterized by distinctive facial features , skeletal anomalies , persisting fingertip pads with dermatoglyphic abnormalities , short stature , and mental retardation . Neurological manifestations and CNS anomalies have been described in some patients with this condition . However , craniosynostosis has been documented in only 4 patients with KS who did not undergo operations . The authors report a case of KS with unicoronal synostosis that constitutes the first documented instance of a patient with this syndrome submitted to surgery . Previous reported instances of craniosynostosis occurring in KS are briefly reviewed . Although rarely documented , craniosynostosis might represent a relatively frequent feature of this syndrome . Kabuki syndrome should be considered at the time of evaluating children with craniosynostosis . The diagnosis of KS can be suspected from the patients ' characteristic facial features . Kabuki syndrome appears to be an underdiagnosed condition in the craniosynostosis population . Given that most patients with this syndrome suffer from only mild to moderate mental retardation , surgical correction can be considered in instances of KS with craniosynostosis .