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2016, Number 1

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Mediciego 2016; 22 (1)

Goldenhar syndrome. Case Report

Torres GA, Machado FG, del Rio YMB, Bernardo GA, García AL

Language: Spanish
References: 13
Page: 64-69
PDF size: 106.01 Kb.


ABSTRACT

Introduction: Goldenhar syndrome is a rare condition of sporadic appearance and with weak genetic component (there are no hereditary patterns, or associated with sex or skin color). It is characterized by a spectrum of facial malformations, especially eye and ear deformations that compromise one side of the face (usually the right side), with the presence or absence of vertebral anomalies. Pleomorphism of this developmental disorder and the variety of manifestations, require a detailed assessment of the individual patient. A clinical case of this disease occurs.
Case report: a patient of 23 months of age, male, firstborn of a couple of 21 and 24 years respectively; both parents are healthy, nonconsanguineous and have a family history of hypertension and bronchial asthma. Although most of the neurological manifestations reported in the Goldenhar syndrome are ominous, serious and disabling, none of them was found in this patient. It keeps the quarterly follow-up consultations of Pediatrics and Logofoniatria, aiming to reassess their psychomotor development and language; so far, favorable results are recorded in both respects.
Conclusions: it is important to make early diagnosis of this disease to provide genetic counseling to the family and ensure the quality of life of patients. The clinical method is the basis for an accurate diagnosis, so it is essential that the physician has the necessary skills for proper practice.


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