Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case.
Wolf-Hirschhorn syndrome (WHS) is associated with partial deletion of short arm of chromosome 4, and characterized by severe growth retardation. Other characteristic features are microcephaly, intellectual handicap, Greek helmet facies and closure deficits such as cleft lip or cleft palate, coloboma of the eye, and cardiac septal defect. We herein present a new case of WHS with bilateral iris colobomata and a left intraorbital large coloboma cyst causing exophthalmos.
Tutunculer
Filiz
F
Istanbul University Istanbul Faculty of Medicine, Department of Pediatrics, Istanbul Turkey. ftutunculer@yahoo.com
Acunas
Betul
B
Hicdonmez
Tufan
T
Deviren
Ayhan
A
Pelitli
Vuslat
V
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D003103:Coloboma / Q000235:genetics* / Q000473:pathology; D003560:Cysts / Q000235:genetics / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome