A Constellation of Rare Findings in a Case of Goldenhar Syndrome

نویسندگان

  • Mitesh Bedi
  • Rakesh Kumar Jain
  • Vipin Kumar Barala
  • Abhimanyu Singh
  • Hiranmayi Jha
چکیده

An 18-month-old child presented with right macrostomia, bilateral preauricular skin tags, bilateral CTEV, squint in bilateral eyes, thoracic vertebral anomalies, right sided aortic arch, and associated left pulmonary agenesis. The patient did not have any associated respiratory symptoms. Ipsilateral pulmonary agenesis is considered as a rare association with Goldenhar syndrome and a case of contralateral pulmonary aplasia has been described as an even rarer association.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Goldenhar Syndrome and Pericentric Inversion of Chromosome 9

Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...

متن کامل

Unusual diagnosis of Von Hippel Lindau syndrome on PET/CT - Case report and brief review of literature

  We report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose PET/CT scans revealed a constellation of findings that suggested the rare Von Hippel Lindau syndrome. The diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (CECT) and contrast enha...

متن کامل

معرفی دختر مبتلا به سندرم استورج وبر همراه با بدشکلی استخوانی در ناحیه دهان- فک بالا- صورت

Background: Sturge-Weber syndrome is one of the rare neurocutaneous disorders with frequency of approximately 1 per 50,000. Sturge-Weber syndrome consists of a constellation of symptoms and signs including a facial nevus (port wine stain), seizure and hemiparesis. In many cases it may associate with mental retardation. Case presentation: A 7- year old girl with mental retardation and a large fa...

متن کامل

سندرم گلدنهار

Background : Hemifacial microsomia or Goldenhar syndrome is a congenital abnormality that it's main features are an one-sided under development of ear (or Artesia), jaw and neck. This syndrome is associated with additional anomalies and from view point of phenotype is highly variable. Case Report: The case was a one day old girl born to a 30 years old woman by normal vaginal delivery. Conge...

متن کامل

Craniofacial abnormalities in goldenhar syndrome: a case report with review of the literature

Goldenhar syndrome (oculo-auriculo-vertebral spectrum) is a rare congenital anomaly of unclear etiology and characterized by craniofacial anomalies such as hemifacial microsomia, auricular, ocular and vertebral anomalies. In many cases, this syndrome goes unnoticed due to a lack of knowledge about its features and because of its associated wide range of overlapping anomalies. Herewith, we prese...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 2017  شماره 

صفحات  -

تاریخ انتشار 2017