Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review.
BMC Ophthalmol
; 24(1): 81, 2024 Feb 22.
Article
en En
| MEDLINE
| ID: mdl-38388885
ABSTRACT
BACKGROUND:
To report a case of a 4-year-old patient with Goldenhar syndrome. CASE PRESENTATION The author presents a rare case report involving a 4-year-old boy with multiple malformations. A comprehensive examination showed that the patient primarily had a limbal dermoid. He also has bilateral microtia and ear canal deformities. The skull CT scan and spine X-ray showed Maxillofacial Abnormalities and scoliosis. Whole Exome Sequencing revealed potential gene variations related to microtia. Although certain circumstances prevented us from initiating follow-up treatment for the patient, we have provided a detailed account of the diagnostic methodologies used for this condition.CONCLUSIONS:
Goldenhar syndrome is a congenital condition, predominantly presenting as sporadic cases. Its diagnosis and management typically necessitate the involvement of multiple disciplines, including otolaryngology and craniofacial surgery. The syndrome encompasses a variety of craniofacial features, which can facilitate early diagnosis and guide subsequent therapeutic interventions.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Neoplasias del Ojo
/
Microtia Congénita
/
Síndrome de Goldenhar
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
BMC Ophthalmol
Asunto de la revista:
OFTALMOLOGIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
China