Bosch-Boonstra-Schaaf optic atrophy syndrome mimicking septo-optic dysplasia in a 10-year-old child.

Kingrey, Brandon; Phornphutkul, Chanika; Chen, Wendy

Kingrey, Brandon; Phornphutkul, Chanika; Chen, Wendy.

Afiliación

Kingrey B; Warren Alpert Medical School of Brown University, Providence, Rhode Island. Electronic address: Brandon_Kingrey@brown.edu.
Phornphutkul C; Warren Alpert Medical School of Brown University, Providence, Rhode Island; Division of Human Genetics, Department of Pediatrics, Lifespan, Providence, Rhode Island.
Chen W; Warren Alpert Medical School of Brown University, Providence, Rhode Island; Division of Ophthalmology, Department of Surgery, Lifespan Physician Group Ophthalmology, Providence, Rhode Island.

J AAPOS ; 25(5): 314-316, 2021 10.

Article en En | MEDLINE | ID: mdl-34425235

RESUMEN

We report a case of confirmed Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with suspected optic nerve hypoplasia, corpus callosum agenesis, and low levels of insulin-like growth factor 1. This patient's presentation demonstrates the clinical overlap of Bosch-Boonstra-Schaaf Optic atrophy syndrome with septo-optic dysplasia and the importance of genetic testing for correct diagnosis.

Asunto(s)

Discapacidad Intelectual; Atrofias Ópticas Hereditarias; Atrofia Óptica; Displasia Septo-Óptica; Factor de Transcripción COUP I; Niño; Humanos; Atrofias Ópticas Hereditarias/genética; Atrofia Óptica/diagnóstico; Atrofia Óptica/genética; Displasia Septo-Óptica/diagnóstico; Displasia Septo-Óptica/genética

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Atrofia Óptica / Atrofias Ópticas Hereditarias / Displasia Septo-Óptica / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Child / Humans Idioma: En Revista: J AAPOS Asunto de la revista: OFTALMOLOGIA / PEDIATRIA Año: 2021 Tipo del documento: Article

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