1. Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case
- Author
-
Ayhan Deviren, Tufan Hicdonmez, Betül Acunaş, Vuslat Pelitli, and Filiz Tutunculer
- Subjects
Male ,Microcephaly ,Exophthalmos ,Fatal Outcome ,Developmental Neuroscience ,Intellectual Disability ,medicine ,Humans ,Cyst ,Abnormalities, Multiple ,Iris (anatomy) ,Wolf–Hirschhorn syndrome ,Coloboma ,Unusual case ,business.industry ,Cysts ,Infant, Newborn ,Brain ,General Medicine ,Anatomy ,Syndrome ,medicine.disease ,Magnetic Resonance Imaging ,eye diseases ,medicine.anatomical_structure ,Orbital cyst ,Karyotyping ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,medicine.symptom ,Chromosome Deletion ,Chromosomes, Human, Pair 4 ,business - Abstract
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.
- Published
- 2003