Goldenhar Syndrome: A Case Report

Abstract

BACKGROUND: Goldenhar syndrome is a multiple congenital disorder with classic characteristics regarding the face, eyes, ears. The incidence of this case is between 1:3.500 to 1:5.600. Early detection and good management can have good outcomes. A newborn with this condition can have a normal life and intelligence.
 CASE PRESENTATION: A baby girl was born spontaneously at Wangaya General Hospital with APGAR minutes 1, 5, and 10 scores respectively 3, 5, and 8. Infant birth weight was 2.600 grams, body length was 47 cm, and head circumference was 31 cm with estimated age 32-34 weeks. Clinically showing an asymmetrical face, mouth toward the right side without hypoplasia, the eyelids appear asymmetrical with the right eyelid not open when the left eyelid is open, and the two ears not fully formed and diagnosed as Goldenhar Syndrome. From the physical examination, the ear canal is not formed, intact palate, normal eyeball no abnormalities in the spine and found murmur during the systolic-diastolic phase of the heart. Evaluation of the function of vision and hearing has not been concluded. Abdominal ultrasound showed first-degree picture of bilateral hydronephrosis, and from echocardiography, a PDA was found. TORCH profiles in infant were positive for IgG anti-CMV, IgG anti-rubella, and IgG anti-HSV 1. The prognosis, in this case, is good and periodic evaluation needs to be done in 6 months.
 CONCLUSION: Multidisciplinary examination and management, in this case, are needed so that appropriate therapeutic planning can be carried out as well as periodic evaluations in monitoring the child's growth and development.

A Case Report of Klebsiella sepsis in an Infant with Goldenhar Syndrome: Association or Coincidence

“…On examination, ear abnormalities such as blind fistulas or preauricular skin tags were noted in our case study. The above-mentioned auricular abnormalities were also reported in various case series [8][9][10][11]. Artesia of the external auditory meatus, middle ear defects, and deafness may be seen [4].…”

A new lumbar vertebral anomaly in Goldenhar syndrome: A case report

“…Goldenhar syndrome has reported incidence ranging from 1:3500 to 1:20000 live births [3 , 4] . It consists of abnormalities involving the first and the second branchial arches and its etiology is heterogenous [2 , 3 , 5 , 6] .…”

“…A newborn with this condition can have a normal life and intelligence [4] , so it is important to correctly diagnose and manage the various conditions associated with Goldenhar syndrome to preserve patient quality of life [1 , 2 , [13] , [14] , [15] .…”

Multicorrection Goldenhar syndrome (facio-auriculo-vertebral dysplasia): a rare follow up case of 12 years old female

“…Nevertheless, the etiology of GHS can be due to exposure to multiple viruses such as rubella and influenza, or prescription drugs during pregnancy. Besides, maternal diabetes can also be the causative factor [ 3 , 5 ]. Since GHS involves first and second bronchial arches, it is categorized into a first and second brachial arch syndrome, respectively [ 1 , 3 ].…”

“…Since GHS involves first and second bronchial arches, it is categorized into a first and second brachial arch syndrome, respectively [ 1 , 3 ]. Typical clinical findings in a classic GHS include eye disorders, ear irregularities (with or without hearing loss), facial impairments, dental and oral ailments, cardiac syndromes, central nervous system (CNS) involvement, trachea and lung malformations, kidney and gastrointestinal defects, and skeletal alterations [ 1 , 5 ]. Laboratory, radiological, and clinical findings form the basis for the diagnosis of GHS [ 3 ].…”