Goldenhar Sydrome Presented Bilateral Cataract In Neonatal Period

Abstract

Goldenhar syndrome also known as Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear and eye, hemi facial microsomia and vertebral anomalies. It is associated with anomalous development of the first branchial arch and second branchial arch. The aetiology of this rare sydrome is largely unknown and seems to be heterogeneous. The malformations affect usually one side of the body, however 4-8 percent of affected individuals have bilateral involvement. The management of this condition requires a multi-diciplinary approach.We report a pretem neonate of Goldenhar sydrome who presented bilateral cataract in addition to all classical signs of the condition.

Keywords

• Goldenhar syndrome,congenital cataract,facial asymmetry

Yenidoğan Döneminde Bilateral Katarakt İle Bulgu Veren Goldenhar Sendromu Olgusu

Abstract

Goldenhar sendromu veya okuloaurikulovertebral spektrum, göz-kulak anomalileri, hemifasyal mikrozomi vevertebral anomaliler ile karakterize gelişimsel bir bozukluktur. Sendrom, birinci ve ikinci brakial yarıktan köken alan yapıların doğumsal defektlerinden oluşur. Sendromun nedeni tam olarak bilinmemektedir ancak heterojen olduğu düşünülmektedir. Olguların çoğunda tek taraflı tutulum görülürken %4-8 inde iki taraflı olabilmektedir. Bu sendromun yönetimi multidisipliner yakalaşım gerektirir. Burada sendromun tüm klasik bulgularına çift taraflı kataraktın eşlik ettiği prematüre doğan bir olgu sunulmuştur.

Keywords

• Goldenhar sendromu,konjenital katarakt,fasyal asimetri

References

1. Goldenhar M. Malformative associations of eye and ear, expecially the dermoid syndrome and the epibulbar dermoid auricular appendix-preau- ricula fistula auris congenital syndrome and its connections with mandi- bular-facial-dysostosis. J Genet Hum 1952; 1 :243-82.
2. Cohen MM Jr1, Rollnick BR, Kaye CI. Oculoauricul over tebral spectrum: an up dated critique. Cleft Palate J.1989;26:276-86.
3. Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO. Oculoauriculo- vertebral dysplasia and variants: phenotypic characteristics of 294 pa- tients. Am J Med Genet. 1987;26:361-75.
4. Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the Head and Neck, Fourth Edition. Oxford UK: Oxford University Press, 2001.
5. Barisic I, Odak L, Loane M, Garne E, Wellesley D, CalzolariE,et al.Pre- valence, prenatal diagnosis and clinical features of oculo-auriculo-ver- tebral spectrum: a registry-based study in Europe.Eur J Hum Genet. 2014;22:1026-33.
6. Werler MM1, Sheehan JE, Hayes C, Padwa BL, Mitchell AA, Mulliken JB. Demographic and reproductive factors associated with hemifacialmicro- somia. Cleft Palate Craniofac J. 2004;41:494-50.
7. Van Bennekom CM, Mitchell AA, Moore CA, Werler MM; National Birth Defects Prevention Study Vasoactive exposures during pregnancy and risk of microtia. Birth Defects Res A Clin Mol Teratol. 2013;97:53-9.