Iris Transillumination Defects Associated With Pallister–Killian Syndrome

This report describes a new finding of iris transillumination defects in Pallister–Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12. [J Pediatr Ophthalmol Strabismus 2010;47:58–59.]

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Bibliographic Details
Published inJournal of pediatric ophthalmology and strabismus Vol. 47; no. 1; pp. 58 - 59
Main Author Ticho, Benjamin H.
Format Journal Article
LanguageEnglish
Published Thorofare, NJ SLACK Incorporated 01.01.2010
SLACK INCORPORATED
Subjects
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Alopecia
Anus, Imperforate - diagnosis
Anus, Imperforate - genetics
Baldness
Chromosome Aberrations
Chromosomes
Chromosomes, Human, Pair 12
Craniofacial Abnormalities - diagnosis
Craniofacial Abnormalities - genetics
Fibroblasts
Humans
Infant, Newborn
Intellectual disabilities
Intestinal Volvulus - diagnosis
Intestinal Volvulus - genetics
Iris - abnormalities
Iris Diseases - congenital
Iris Diseases - diagnosis
Iris Diseases - genetics
Male
Mosaicism
Patients
Strabismus
Syndrome
United States > US
Illinois
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Summary:This report describes a new finding of iris transillumination defects in Pallister–Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12. [J Pediatr Ophthalmol Strabismus 2010;47:58–59.]
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ISSN:0191-3913
1938-2405
DOI:10.3928/01913913-20100106-14