Saethre-Chotzen syndrome: a case report
DOI:
https://doi.org/10.32385/rpmgf.v40i4.13562Keywords:
Saethre-Chotzen syndrome, Case report, Primary health careAbstract
Introduction: Saethre-Chotzen syndrome is a rare genetic disease characterized by facial and cranial deformities. This case report intends to alert to the signs that describe the disease and the importance of the family doctor in the health care management of these patients and their families.
Case description: ADTG, male, 4 years old. Surveillanced pregnancy in primary health care, without complications. Birth with Apgar 5/10/10 requiring assisted ventilation. In the first surveillance appointment in primary health care, it was observed that at 15 days of life, there was a facial and ocular asymmetry, having been referred to a pediatric appointment for study. After observation and confirmation of the changes in the physical examination, he was referred to a medical genetics appointment, where the genetic mutation of Saethre-Chotzen syndrome was confirmed.
Commentary: Rare diseases require complex management of the health care provided. Conducting surveillance appointments within the scope of general and family medicine is therefore essential, considering the authors that this case reflects the family doctor’s competences, namely in the management of primary health care, and highlights its role as the first point of contact in providing care.
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