RESUMEN
A female infant born at 38 weeks and 2 days via induced vaginal delivery was admitted to the neonatal intensive care unit for respiratory distress soon after birth. Noted to have aphonia on examination, the patient underwent direct laryngoscopy and was diagnosed with an anterior glottic web and subglottic stenosis. The patient underwent a genetic workup including whole exome sequencing which resulted in a diagnosis of a FREM1-associated disorder. Congenital glottic webs and subglottic stenoses have not been previously described as clinical manifestations of FREM1-associated disorders.
Asunto(s)
Afonía , Laringoscopía , Laringoestenosis , Síndrome de Dificultad Respiratoria del Recién Nacido , Humanos , Recién Nacido , Femenino , Afonía/genética , Afonía/diagnóstico , Laringoestenosis/diagnóstico , Laringoestenosis/genética , Síndrome de Dificultad Respiratoria del Recién Nacido/etiología , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , GlotisRESUMEN
BACKGROUND: Whole exome sequencing (WES) is commonly used for patients with nonspecific clinical features and conditions with genetic heterogeneity. However, a nondiagnostic exome does not exclude a genetic diagnosis, so history and physical examination is crucial to selecting appropriate genetic testing. CASES: We report three patients with three recognizable phenotypes: a seven-year-old female with classic Rett syndrome; a 28-year-old male with neuropathy, ataxia, and retinitis pigmentosa; and a 16-year-old male with mosaic, segmental, paternal uniparental disomy 14 who had nondiagnostic WES. CONCLUSIONS: Despite recognizable phenotypes they had diagnostic delays due to incorrect selection of genetic testing. This case series highlights the limitations of WES and reinforces the importance of utilizing patient history and physical examination to select initial testing. We will discuss appropriate testing for these patients and a consistent diagnostic algorithm that can be applied when approaching patients with unknown or uncertain clinical presentations.
Asunto(s)
Exoma , Pruebas Genéticas , Masculino , Femenino , Humanos , Niño , Adulto , Adolescente , Exoma/genética , Secuenciación del Exoma , Fenotipo , Ataxia/genéticaRESUMEN
Tetraploid-diploid mosaicism in humans is exceedingly rare. We present an 11-year-old boy with tetraploid-diploid mosaicism and coexistent hair hypopigmentation with skin hypo- and hyperpigmentation. This case expands the current literature as we are not aware of previous documentation of this unique combination of pigmentary anomalies.
