… phenotypic alterations as well as including lacrimal examination in patients with KS diagnosis.
… We present lacrimal puncta agenesis as a sign never described in kabuky syndrome, and …

… a case of one child with type I Kabuki syndrome (KS), and to … An unusual presentation of
Kabuki syndrome with orbital cysts… Lacrimal Puncta Agenesis in Kabuki Syndrome. Ophthalmic …

… Kabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or
KDM6A, and manifesting with multi-systemic involvement, including recognizable facial features…

Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental
… and scientific links and sheds light on the treatment of Kabuki syndrome individuals. …

… Kabuki syndrome is a multi-system disorder characterized by … Bilateral superior and inferior
punctal agenesis was reported … CT-DCG showed a small right lacrimal sac and bilateral …

… Bilateral renal agenesis when present often results in … Kabuki syndrome is characterized
by a peculiar facies which … of the upper and lower lacrimal puncta, more than what would be …

… The lacrimal system may have a deficiency of tear production … 22 Kabuki syndrome, another
multisystem cognitive disorder … characterized by agenesis of the corpus callosum, intellectual …

… punctal atresia or agenesis (PA) reveals important insights into the association between PA
and systemic abnormalities or genetic syndromes. … syndrome with lacrimal punctal agenesis. …

… other syndromes with no upfront mention of punctal agenesis … lacrimal sac diverticulum
were by far few and reported only in conditions like Robinow’s syndrome and BOSMA syndrome, …

… Ocular hypotelorism can be combined with premaxillary agenesis, resulting in bilateral cleft
… Neuropathologic investigation (not illustrated) disclosed an agenesis of the corpus callosum …