Clinical features and orbital anomalies in Fraser syndrome and a review of management options

Purpose: Fraser syndrome is a rare congenital disorder comprising cryptophthalmos, syndactyly, and many times, urogenital anomalies. Herein, the authors aimed to study and report the clinical features and orbital anomalies in cases diagnosed with Fraser syndrome. Methods: The authors retrospectively evaluated the records of patients with Fraser syndrome who had presented to a tertiary eye care hospital in northern India in the last 2 years (from January 2019 to December 2020). The clinical features were studied, entered in MS Excel, and the data was evaluated. Results: Data of 15 patients with Fraser syndrome were found. Majority of the patients were males and presented in the pediatric age group. Bilateral involvement was more common, and the most common variant of cryptophthalmos was abortive. Complete and medial madarosis of the eyebrows was the most common periocular finding. Complete cryptophthalmos was associated with cystic globes, whereas abortive forms had superior symblepharon. Common systemic features included syndactyly, bifid nose, and urogenital anomaly. Conclusion: Fraser syndrome is an extremely rare developmental disorder; it encompasses a wide range of ocular, periocular, and orbital anomalies, along with multiple pre?existing systemic anomalies. The treating ophthalmologist should always be careful in examining these patients

Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management

Purpose: Tessier classification is used to classify congenital facial cleft disorders utilizing the anatomical location of the cleft and its extension. The orbital and ocular morbidities associated with the birth disorder are numerous. The authors decided to perform a retrospective analysis of the clinical features of the patients who presented to a tertiary care hospital with orbito?cranial clefts. Methods: The authors retrospectively evaluated the records of patients with craniofacial clefts who had presented to a tertiary eye care hospital in northern India in the last 2 years (January 2019–December 2020). The clinical features were studied, entered in MS Excel, and the data were evaluated. Results: The data of 40 patients with Tessier cleft were found. The majority of the patients were male and presented in the pediatric age group. Unilateral involvement was more common, with maxillary hypoplasia being the most common facial anomaly associated. Eyelid coloboma and euryblepharon was the most common periocular finding; lateral epibulbar dermoid and corneal opacity were the most common ocular surface anomaly. The majority of patients had presented for cosmetic correction. The syndromic association was with Goldenhar syndrome (n = 13), Fraser (n = 2), and one each of Treacher Collins, blepharocheilodontic, organoid nevus, and oculo?dento?digital syndrome. Combined clefts were also seen. Conclusion: Tessier cleft classification is a useful tool to classify cranio?facial left anomalies. Multitudes of ocular and orbital anomalies can be associated with their different forms. Better knowledge and understanding of the classification will aid immensely in predicting the ocular defects and planning their management

Demographic Factors, Autopsy Findings and Syndrome Diagnosis in Congenital Anomalies with Imperforate Anus

Introduction: Imperforate anus is a relatively rare birth defectin which rectum is malformed. Cases of isolate imperforateanus exist, but most commonly, this condition is found as apart of syndromes and congenital anomalies. Therefore, weconducted a prospective fetal autopsy study to know theassociation of imperforate anus in congenital anomalies,analyse the demographic factors and correctly diagnose thesyndromes.Materials and Methods: Perinatal deaths with congenitalanomalies over a period of 1 year at our institute wereincluded in the study. Standard protocol for autopsy wasfollowed in each case. External examination andanthropometric measurements were carried out. Autopsy wasconducted according to Virchow’s technique by giving amodified “Y” shaped incision starting from below the ears tosymphysis pubis encircling umbilicus on the left side. Boththorax and abdomen were opened. Internal examinationincluding viscera was done and samples were collected forhistopathological examination. Results were noted andanalysed.Results: Out of the 57cases with congenital anomalies, 9cases were found to be associated with imperforate anuswhich included VACTERL anomaly with Prune Belly syndrome,Edward’s syndrome, Fraser syndrome, OEIS complex (2cases), Ellis-Van-Creveld syndrome, TRAP baby andGastroschisis (2 cases).Conclusion: Autopsy has an important role in the diagnosis ofsyndromes and associations with imperforate anus. Our studyalso pointed at the contribution of demographic and maternalrisk factors towards these syndromes.

Síndrome brânquio-otorrenal: um importante alerta / Branchio-oto-renal syndrome: an important warning

A síndrome brânquio-otorrenal (SBOR) é uma doença autossômica dominante, provocada por mutações em genes da organogênese humana, principalmente o gene EYA 1. Sua incidência é de 1 em 40.000 recém-nascidos vivos. As manifestações clínicas da SBOR decorrem de transtorno genético e envolvem perda auditiva de condução, neurossensorial ou mista, malformações da orelha externa, média e interna, cistos ou fístulas branquiais e anomalias renais que podem variar de hipoplasia a agenesia renal. O diagnóstico clínico da SBOR se baseia na presença de critérios clínicos. A genética molecular é de grande valor para a confirmação do diagnóstico e para estabelecer o diagnóstico pré-natal. Testes audiométricos completos e exames renais apurados são indicados a fim de mensurar com precisão a extensão dos danos causados pela doença. Sua ampla variabilidade clínica sugere, na literatura, que os diferentes fenótipos dessa síndrome representam, na realidade, grupos heterogêneos de doenças, que fazem diagnóstico diferencial, principalmente, com a síndrome brânquio-otorrenal. O tratamento se limita a reparar os danos causados pela doença, podendo estar indicado o uso de próteses auriculares ou intervenções cirúrgicas otológicas e renais, a fim de melhorar a qualidade de vida dos pacientes. O aconselhamento genético é a melhor forma de prevenção, sendo fundamental no tratamento.

Melnick-Fraser Syndrome in the Same Family / 대한이비인후과학회지

Melnick-Fraser syndrome is a rare congenital anomaly that is characterized by preauricular fistula, branchial fistula, hearing impairment, and is often combined with renal anomaly. Preauricular fistula and branchial fistula can occur in the same individual, but their association with hearing impairment is very rare. The condition is inherited in an autosomal dominant mode. Recently, we experienced a case of Melnick-Fraser syndrome in a 32 years old male patient with familial tendency. We report this case with a review of literature.