Thus, formal palpebral fissure measurement could be useful diagnostically.ĭuring this review, newly diagnosed ocular findings in three patients included one with a previously unknown refractive error (myopia), one with strabismus and tilted discs and one with a previously unrecognised ptosis. This was most significant at younger ages. Our review of seven KS patients showed that they all have palpebral fissure lengths greater than two standard deviations from the mean when plotted for age. The external eye and eyebrow findings are important diagnostic criteria 1 and are certainly important features of the gestalt. Disorders in a similar spectrum to each of these have been previously reported in KS patients. 9 There were individual patients with congenital pseudarthrosis of the clavicle and immunodeficiency. The presence of a bicuspid aortic valve and coarctation in two of five patients is noteworthy as this was found to be the most common type of congenital heart disease in KS patients. KS is a multisystem disorder and our cohort is typical with evidence of abnormal development of the face, eyes, skeleton, heart, kidney and developmental delay.
Nocturnal lagophthalmos genetic series#
We set out to review a series of clinically well-defined patients with KS to characterise their eye findings and to replicate the findings of Milunsky and Huang. Recently, high-resolution comparative genomic hybridisation (HR-CGH) was used to detect a duplication of 8p22 to 8p23.1 in 6/6 patients with KS 8 and a circa 3.5 megabase duplication was identified in all patients using locus-specific FISH probes. Several inconsistent chromosome aberrations have been described in KS patients of which microdeletions of 1q32-41, 5 22q11.2 6 and ring X chromosomes 7 have already been excluded. Recent reports have noted a high incidence of ocular abnormalities in this group of patients.
In particular, the eye findings of long palpebral fissures and eversion of the lateral third of the lower eyelid are suggestive. 1, 2 The facial gestalt is important in making the diagnosis. It is characterised by mild to moderate mental retardation, postnatal growth retardation, skeletal anomalies and classical facial features. Kabuki syndrome (KS, OMIM 147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause.
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