Large Angle Congenital Esotropia in a Child With Kabuki Syndrome: A Case Report

Kabuki syndrome is an uncommon genetic disease associated with skeletal, cardiac, neurological, and ocular manifestations. Strabismus is an ophthalmic manifestation of Kabuki syndrome; however, it is infrequently documented in detail. We report a case of Kabuki syndrome in a patient who presented with large angle congenital esotropia. This case report highlights the importance of early eye examinations and subsequent interventions in patients diagnosed with Kabuki syndrome.

[1]  J. Ko,et al.  Kabuki syndrome: clinical and molecular characteristics , 2015, Korean journal of pediatrics.

[2]  M. Digilio,et al.  Kabuki syndrome: clinical and molecular diagnosis in the first year of life , 2014, Archives of Disease in Childhood.

[3]  B. Wollnik,et al.  Unmasking Kabuki syndrome , 2013, Clinical genetics.

[4]  K. Tsubota,et al.  Congenital corneal staphyloma as a complication of Kabuki syndrome , 2012, American journal of medical genetics. Part A.

[5]  Pradeep Sharma,et al.  Esotropia in Kabuki syndrome. , 2009, Journal of pediatric ophthalmology and strabismus.

[6]  J M Milunsky,et al.  Unmasking Kabuki syndrome: chromosome 8p22–8p23.1 duplication revealed by comparative genomic hybridization and BAC‐FISH , 2003, Clinical genetics.

[7]  N. Niikawa,et al.  Kabuki make‐up syndrome: A review , 2003, American journal of medical genetics. Part C, Seminars in medical genetics.

[8]  P. Willems,et al.  Kabuki syndrome: a review study of three hundred patients. , 2002, Clinical Dysmorphology.

[9]  J. Opitz,et al.  Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. , 1988, American journal of medical genetics.