New ocular findings in a case of Kabuki syndrome
نویسندگان
چکیده
منابع مشابه
Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)
BACKGROUND Kabuki syndrome is a multi-system disorder with peculiar facial features, and ophthalmic abnormalities are frequently involved. This case report of a child with Kabuki syndrome describes two new previously unreported ophthalmic conditions. CASE PRESENTATION A 3-year-old Taiwanese boy with Kabuki syndrome had a short stature, spinal dysraphism, intellectual disability and typical fa...
متن کاملKabuki syndrome: a case report and summary of previous oral findings
A case of Kabuki syndrome in a ten-year old male is presented with a review of published literature. This rare autosomal dominant condition presents with a number of characteristic dermatoglyphic abnormalities and facial features and other associated developmental anomalies and oral findings. The presence of hypodontia and other dental morphological abnormalities, such as root and crown anomali...
متن کاملLatex allergy in a patient with Kabuki syndrome. Case report.
BACKGROUND AND OBJECTIVES The knowledge of anesthesiologists of specific aspects of patients with rare syndromes is a growing need since those patients are increasingly taken to the operating room. The objective of this report was to describe a case of latex allergy in a patient with Kabuki Syndrome, whose aspects have not been completely explained, alerting anesthesiologists for the possibilit...
متن کاملOcular Findings in Rett Syndrome
Rett syndrome is a rare neurodegenerative disease, characterized by a year of normal development, followed by rapid mental and physical deterioration. A review of the medical literature reveals only limited research on ocular abnormalities in this population. The purpose of this paper is to investigate visual findings in a cohort of patients with Rett syndrome. Seven females with Rett syndrome ...
متن کاملOcular findings in Jacobsen syndrome.
PURPOSE To discuss the ophthalmic findings and their clinical significance in 10 new cases of Jacobsen syndrome (mental retardation, craniofacial anomalies, congenital heart defects, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature. METHODS Ten new cases of Jacobsen syndrome were collected and studied prospectively for detection of...
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ژورنال
عنوان ژورنال: Eye
سال: 2004
ISSN: 0950-222X,1476-5454
DOI: 10.1038/sj.eye.6700649