Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case

Tütüncüler, Filiz; Acunaş, Betül; Hiçdönmez, Tufan; Deviren, Ayhan; Pelitli, Vuslat

doi:10.1016/s0387-7604(03)00125-6

Cited by 8 publications

(5 citation statements)

References 5 publications

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“…Table 1 shows clinical data of our patient and of patients from the literature with WHS, OAVS, and also with Xp22.33 duplication, these separated by gender, due to different X inactivation patterns. The patient described here presented with WHS features, including several ocular findings compatible with ocular anomalies and early-onset glaucoma previously described in patients with this syndrome, suggesting that the association of ocular anomalies with WHS is not coincidental [Tutunculer et al, 2004]. Tutunculer et al [2004] reported a patient with a 4p deletion, WHS, bilateral coloboma of the iris, and a large left intraorbital coloboma cyst causing exophthalmos.…”

Section: Discussionsupporting

confidence: 68%

“…The patient described here presented with WHS features, including several ocular findings compatible with ocular anomalies and early-onset glaucoma previously described in patients with this syndrome, suggesting that the association of ocular anomalies with WHS is not coincidental [Tutunculer et al, 2004]. Tutunculer et al [2004] reported a patient with a 4p deletion, WHS, bilateral coloboma of the iris, and a large left intraorbital coloboma cyst causing exophthalmos. Wu-Chen et al [2004] described 10 WHS patients with ophthalmic findings including exodeviation (9/10), nasolacrimal obstruc- tion (6/10), shallow orbits (3/10), epicanthal folds (3/10), foveal hypoplasia (3/10), upper lid coloboma (2/10), optic disk anomalies (2/10), downslanting palpebral fissures (2/10), microcornea (2/10), hypertelorism (1/10), nystagmus (1/10), and chorioretinal coloboma (1/10).…”

Section: Discussionsupporting

confidence: 68%

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Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy

Bragagnolo

Colovati

Guilherme

et al. 2016

Cytogenet Genome Res

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Wolf-Hirschhorn syndrome (WHS) is a contiguous gene and multiple malformation syndrome that results from a deletion in the 4p16.3 region. We describe here a 6-month-old girl that presented with WHS features but also displayed unusual findings, such as epibulbar dermoid in the left eye, ear tags, and left microtia. Although on G-banding her karyotype appeared to be normal, chromosomal microarray analysis revealed an ∼13-Mb 4p16.3p15.33 deletion and an ∼9-Mb Xp22.33p22.31 duplication, resulting from a balanced maternal t(X;4)(p22.31;p15.33) translocation. The patient presented with functional Xp disomy due to an unbalanced X-autosome translocation, a rare cytogenetic finding in females with unbalanced rearrangements. Sequencing of both chromosome breakpoints detected no gene disruption. To the best of our knowledge, this is the first patient described in the literature with WHS and epibulbar dermoid, a typical characteristic of the oculoauriculovertebral spectrum (OAVS). Our data suggest that possible candidate genes for OAVS may have been deleted along with the WHS critical region.

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Section: Discussionsupporting

confidence: 68%

Section: Discussionsupporting

confidence: 68%

Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy

Bragagnolo

Colovati

Guilherme

et al. 2016

Cytogenet Genome Res

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“…In one case the age at imaging was not mentioned but the patient was diagnosed with WHS prenatally [Battaglia et al, 1999]. The other cases without periventricular cysts were 1 day of age, 8 months, 9 months, 12 months, up to 9 years of age [Titomanlio et al, 2004;Tutunculer et al, 2004;Balci et al, 2006;Righini et al, 2007]. In seven other cases the age at imaging was again not mentioned but no cysts were detected [Battaglia et al, 1999].…”

Section: Discussionmentioning

confidence: 97%

Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf–Hirschhorn syndrome. Report of two cases and review of the literature

Verbrugge

Choudhary

Ladda

2009

American J of Med Genetics Pt A

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Wolf-Hirschhorn syndrome (4p-) is a rare disorder with characteristic physical findings. Neuroimaging findings are relatively scarce. We performed a literature search and found 22 reports of neuroimaging findings. We present findings in our two cases, each with the previously unreported finding of a tethered cord. The most common abnormalities were of the corpus callosum, occurring in 71% of all cases. There appears to be a high association in the syndrome between corpus callosal abnormalities and periventricular cysts formation in the first year of life. These cysts eventually fuse with the frontal horns during late infancy with enlargement of the frontal horns. Absence of other causes for periventricular cyst formation, such as perinatal distress, prematurity, or cytomegalovirus infection, appears to strengthen the association. With further studies, neuroimaging findings may eventually assist in the diagnosis of patients with Wolf-Hirschhorn syndrome.

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“…CHARGE syndrome (coloboma, heart disease, choanal atresia, retardation of growth and development, genitourinary malformations, and ear abnormalities) is a rare genetic condition that occurs during early fetal development that affects multiple organ systems [ 15 ]. A partial deletion of the short arm of chromosome 4 is observed in patients with Wolf–Hirschhorn syndrome [ 16 ]. Wolf–Hirschhorn syndrome is characterized by microcephaly, intellectual impairment, Greek helmet facies, and closure abnormalities such as ocular coloboma and cardiac septal defect [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

Ocular coloboma combined with cleft lip and palate: a case report

et al. 2020

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Background Ocular coloboma is an excavation of ocular structures that occurs due to abnormal fusion of the embryonic optic fissure. Further, cleft lip/palate (CL/P), a congenital midline abnormality, is caused by a defect in the fusion of the frontonasal, maxillary, and mandibular prominences. No study has reported the association between these two phenotypes in the absence of other systemic abnormalities. We present a case of ocular coloboma along with CL/P and without other neurological abnormalities. Case presentation A 5-year-old Asian boy presented with decreased visual acuity in his right eye. Physical examination revealed no abnormal findings except CL/P, which was surgically corrected at the age of 9 months. Best-corrected visual acuity was 20/60 in the right eye and 20/25 in the left eye. Anterior segment examination revealed iris coloboma in the inferior quadrant of his right eye as well as a large inferonasal optic disc and chorioretinal coloboma in the same eye. He was prescribed glasses based on his cycloplegic refractive errors and part-time occlusion of the left eye was recommended. After 3 months, best-corrected visual acuity improved to 20/30 in the right eye. Conclusion The association of ocular coloboma should be kept in mind when encountering a patient with CL/P without other neurological or systemic abnormalities.

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Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case

Cited by 8 publications

References 5 publications

Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy

Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy

Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf–Hirschhorn syndrome. Report of two cases and review of the literature

Ocular coloboma combined with cleft lip and palate: a case report

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