Anophthalmia, Global Developmental Delay, and Severe Dysphagia in a Young Girl With 14q22q23 Microdeletion Syndrome

14q22q23 microdeletion syndrome, also called Frias syndrome, is an extremely rare partial deletion of the long arm of chromosome 14 characterized by the anomalies of the pituitary gland, eyes, and hand/foot. Intellectual disability and facial dysmorphism are other common manifestations. Haploinsuffi...

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Detalles Bibliográficos
Autores principales: Kera, Jeslin, Watal, Pankaj, Ali, Syed A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362864/
https://www.ncbi.nlm.nih.gov/pubmed/34408948
http://dx.doi.org/10.7759/cureus.16395

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362864/
https://www.ncbi.nlm.nih.gov/pubmed/34408948
http://dx.doi.org/10.7759/cureus.16395

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