Síndrome dismórfico neonatal: reporte de caso de un diagnóstico severo

Flor Ismena Cari; Roy Jonatan Rojas-Guerra

doi:10.59594/iicqp.2024.v2n1.84

Authors

Flor Ismena Cari Centro de Telemedicina, Seguro Social de Salud, EsSalud, Lima, Perú https://orcid.org/0000-0002-1926-9101
Roy Jonatan Rojas-Guerra Cuerpo General de Bomberos Voluntarios del Perú, Lima, Perú https://orcid.org/0000-0002-7898-333X

DOI:

https://doi.org/10.59594/iicqp.2024.v2n1.84

Keywords:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Congenital Abnormalities, Genetics, Abnormal Karyotype

Abstract

Introduction: Dysmorphic syndrome refers to patients presenting at birth with some physical, structural, and functional abnormality. It is estimated that annually, 6 % of children worldwide are born with a congenital anomaly, and more than 300,000 die during their first month of life. Diagnosis can be complicated and even subjective, especially when there are phenotypic variations, different degrees of severity and associated comorbidities, and maternal pathologies that are not adequately or timely evaluated. In addition, it is not uncommon to need genetic tests that are not necessarily easy to access.

Objective: To report the clinical manifestations and complications of dysmorphic syndrome.

Case presentation: We present the case of a newborn of 30 weeks, according to Capurro, born to a mother with a history of diabetes and inadequate prenatal control. The newborn presents multiple dysmorphic features in addition to esophageal atresia. A VACTERL association or trisomy 18 were suggested as possible diagnoses. The latter was confirmed by genetic testing, but after the patient's death, which occurred at the end of his third week of life.

Conclusions: The approach to the neonate with dysmorphic syndrome represents a real diagnostic, therapeutic, and social challenge. The lack of resources and deficiencies in the health system make early diagnosis difficult, even more so in these infrequent pathologies.

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