Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association.

Download Full-text

Dyke–Davidoff–Masson syndrome with crossed cerebellar atrophy

South African Journal of Radiology ◽

10.4102/sajr.v21i1.1207 ◽

2017 ◽

Vol 21 (1) ◽

Author(s):

Sanjay M. Khaladkar ◽

Shishir Chauhan ◽

Abhijit M. Patil ◽

Siddappa G. Gandage ◽

Surbhi Chauhan Kalra

Keyword(s):

Mental Retardation ◽

Middle Cerebral Artery ◽

Cerebellar Atrophy ◽

Facial Asymmetry ◽

Rare Condition ◽

Female Child ◽

Left Middle Cerebral Artery ◽

Cerebral Hemiatrophy ◽

Radiological Changes ◽

Left Middle

Dyke–Davidoff–Masson syndrome is a rare condition with classical, clinical and radiological changes – mental retardation, hemiparesis, facial asymmetry, seizures and cerebral hemiatrophy with calvarial changes. Contralateral cerebellar atrophy is rare and occurs if insult occurs after 1 month of age. We report a case of a 6-year-old female child presenting with right-sided hemiparesis, convulsions and left cerebral hemiatrophy with an old infarct in left middle cerebral artery (MCA) territory, ipsilateral calvarial thickening and right (crossed) cerebellar atrophy.

Download Full-text

Atypical Goldenhar Syndrome: A Case Report

Journal of Clinical Pediatric Dentistry ◽

10.17796/jcpd.31.2.e0134061u2670829 ◽

2007 ◽

Vol 31 (2) ◽

pp. 118-122 ◽

Cited By ~ 4

Author(s):

Ashok Kumar Jena ◽

Ritu Duggal

Keyword(s):

Case Report ◽

Left Hemisphere ◽

Facial Asymmetry ◽

The Other ◽

Goldenhar Syndrome ◽

Additional Finding ◽

Skin Tags ◽

Characteristic Features

A patient with atypical Goldenhar syndrome is reported. The characteristic features similar to the other reported cases are facial asymmetry, multiple skin tags, limbal dermoids and posteriorly angulated ear. The atypical intraoral feature is unilateral presence of multiple complex odontomes. The hypotrophy of left hemisphere with localized calcification in the occipital and parietal regions of brain is also an additional finding in this patient.

Download Full-text

Unilateral Hypoplasia of Lung in Association with Dilated Stomach

Journal of Postgraduate Medicine Education and Research ◽

10.5005/jp-journals-10028-1099 ◽

2014 ◽

Vol 48 (1) ◽

pp. 40-42

Author(s):

Sangeeth Kumar Kasilingam ◽

Savita Jindal

Keyword(s):

Bronchial Asthma ◽

Congenital Abnormalities ◽

Pulmonary Hypoplasia ◽

Human Lung ◽

Pressure Effects ◽

Lung Growth ◽

Intrauterine Life ◽

Hypoplastic Lung ◽

Rare Association ◽

Embryonic Life

ABSTRACT Human lung growth starts as a primitive lung bud in early embryonic life and its growth is determined by various factors which occur during development. Pressure effects during intrauterine life from neighboring organs can impede the growth and lead to a hypoplastic lung. These could be due to associated congenital abnormalities of diaphragm, kidney, heart, GIT, etc. Dilated stomach is a rare association with a hypoplastic lung. We describe a case of congenital unilateral pulmonary hypoplasia in association with dilated stomach in a 25-year-old man who presented with exacerbation of bronchial asthma. How to cite this article Kasilingam SK, Jindal S. Unilateral Hypoplasia of Lung in Association with Dilated Stomach. J Postgrad Med Edu Res 2014;48(1):40-42.

Download Full-text

Do you know this syndrome?

Anais Brasileiros de Dermatologia ◽

10.1590/s0365-05962012000300029 ◽

2012 ◽

Vol 87 (3) ◽

pp. 495-497

Author(s):

Luiz Maurício Costa Almeida ◽

Michelle dos Santos Diniz ◽

Lorena dos Santos Diniz

Keyword(s):

Multidisciplinary Approach ◽

Goldenhar Syndrome ◽

Clinical Aspects ◽

Genetic Syndrome ◽

Live Births ◽

Mandibular Hypoplasia ◽

Radiologic Findings ◽

Branchial Arches ◽

Skin Tags ◽

Systemic Manifestations

Goldenhar syndrome is a sporadic or inherited genetic syndrome characterized by limbal dermoids, preauricular skin tags and mandibular hypoplasia. Vertebral abnormalities may occur. The incidence of this syndrome ranges from 1 in 5,600 to 1 in >20,000 live births. It consists of abnormalities involving the first and second branchial arches. The etiology of the syndrome is heterogeneous. Diagnosis should be based principally on clinical aspects, which should be associated with the patient's systemic conditions and radiologic findings. Treatment depends on the patient's age and systemic manifestations, with a multidisciplinary approach often being required.

Download Full-text

Goldenhar syndrome with contralateral pulmonary aplasia: a rare association

Journal of Radiology Case Reports ◽

10.3941/jrcr.v10i1.2113 ◽

2016 ◽

Vol 10 (1) ◽

Cited By ~ 1

Author(s):

TEJESHWAR SINGH JUGPAL ◽

JYOTI KUMAR ◽

SWATI GUPTA ◽

ANJU GARG

Keyword(s):

Goldenhar Syndrome ◽

Rare Association

Download Full-text

Mandibular coronoid process hyperplasia: a case report

Revista CEFAC ◽

10.1590/1982-0216201820311417 ◽

2018 ◽

Vol 20 (3) ◽

pp. 400-405 ◽

Cited By ~ 1

Author(s):

Meire Cristiane Alves Tolentino ◽

Jocasta Santos Assis ◽

Claudia Assunção e Alves Cardoso ◽

Flávio Ricardo Manzi

Keyword(s):

Computed Tomography ◽

Treatment Plan ◽

Mouth Opening ◽

Facial Asymmetry ◽

Rare Condition ◽

Coronoid Process ◽

Temporomandibular Joint Dysfunction ◽

Normal Bone ◽

Recommended Treatment ◽

Proper Diagnosis

ABSTRACT Coronoid Process Hyperplasia is a rare condition characterized by the increase in size of a histologically normal bone. It can be confused with Temporomandibular Joint Dysfunction, due to the presence of major signs/symptoms, including the limitation of mouth opening, pain, and facial asymmetry. Although several theories have been proposed, the etiology remains unknown. The recommended treatment is mandibular coronoidectomy. In the present study, the importance of computed tomography to reach the proper diagnosis and the surgical treatment plan is demonstrated.

Download Full-text

Silent sinus syndrome associated with natural childbirth

Polski Przegląd Otorynolaryngologiczny ◽

10.5604/01.3001.0012.7723 ◽

2018 ◽

Vol 7 (4) ◽

pp. 1-5

Author(s):

Aleksandra Sobolewska ◽

Pedro Clarós

Keyword(s):

Maxillary Sinus ◽

Nasal Congestion ◽

Rare Condition ◽

Orbital Floor ◽

Ipsilateral Side ◽

Natural Childbirth ◽

Silent Sinus Syndrome ◽

Unusual Association ◽

History Of ◽

One Step

Spontaneous, painless enophthalmos, hypoglobus with orbital floor resorption and maxillary sinus collapse on the ipsilateral side is recognised as a rare condition known as the silent sinus syndrome. This paper aimed to present an unusual association of natural childbirth and the onset of orbital floor displacement caused by silent sinus syndrome. We wanted to present a case of a 31-year-old woman presented with a 3-month history of painless, progressive right enophthalmos otherwise utterly asymptomatic who developed symptoms shortly after natural childbirth. That association have never been presented before in literature. We also wanted to discuss the pregnancy-related nasal congestion. We present our experience with these case treated with a single-stage procedure, focusing on the advantages of this one-step approach.

Download Full-text

Goldenhar Syndrome Associated with Extensive Arterial Malformations

Case Reports in Pediatrics ◽

10.1155/2015/954628 ◽

2015 ◽

Vol 2015 ◽

pp. 1-8 ◽

Cited By ~ 1

Author(s):

Renee Frances Modica ◽

L. Daphna Yasova Barbeau ◽

Jennifer Co-Vu ◽

Richard D. Beegle ◽

Charles A. Williams

Keyword(s):

Main Pulmonary Artery ◽

Abnormal Development ◽

Goldenhar Syndrome ◽

Iliac Arteries ◽

Vascular Abnormalities ◽

Ct Angiogram ◽

Branchial Arches ◽

The Common ◽

Vertebral Defects ◽

Left Thyroid Lobe

Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects secondary to abnormal development of the 1st and 2nd branchial arches and vertebrae. Other findings include cardiac and vascular abnormalities. Though these associations are known, the specific anomalies are not well defined. We present a 7-month-old infant with intermittent respiratory distress that did not improve with respiratory interventions. Echocardiogram suggested a double aortic arch. Cardiac CT angiogram confirmed a right arch and aberrant, stenotic left subclavian artery, dilation of the main pulmonary artery, and agenesis of the left thyroid lobe. Repeat echocardiograms were concerning for severely dilated coronary arteries. Given dilation, a rheumatologic workup ensued, only identifying few weakly positive autoantibodies. Further imaging demonstrated narrowing of the aorta below the renal arteries and extending into the common iliac arteries and proximal femoral arteries. Given a physical exam devoid of rheumatologic findings, only weakly positive autoantibodies, normal inflammatory markers, and presence of the coronary artery dilation, the peripheral artery narrowings were not thought to be vasculitic. This case illustrates the need to identify definitive anomalies related to Goldenhar Syndrome. Although this infant’s presentation is rare, recognition of specific vascular findings will help differentiate Goldenhar Syndrome from other disease processes.

Download Full-text