Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex

Abstract

Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term “expanded Goldenhar complex” has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known that nervous system anomalies, including encephalocele or caudal regression, may, rarely, occur in this condition. We report two rare cases of infants affected by Goldenhar Syndrome, associated with neural tube defects, specifically caudal regression syndrome and nasal encephaloceles, to underline the extremely complex and heterogeneous clinical features of this oculoauriculovertebral spectrum. These additional particular cases could increase the number of new variable spectrums to be included in the “expanded Goldenhar complex.”

Recurrent Urinary Tract Infection as a Manifestation of Goldenhar Syndrome: Case Report

“…Goldenhar Sendromu ilk olarak Dr. Maurice Goldenhar tarafından mikrotia, hemifasiyal mikrozomi, preaurikular skin tag, epibulber dermoid ve vertebral malformasyonlar gibi çeşitli anomalilerin birliktelik gösterdiği bir hastalık olarak tanımlanmıştır (1,2). İlk iki brakiyal arkın gelişim bozukluğu sonucunda oluşan bu sendromda fasiyal asimetri, göz, kulak, kalp, akciğer, vertebra, gastrointestinal ve ürogenital sistem anomalileri de görülebilir (3,4).…”