Work

P253: Pancraniosynostosis and macrocephaly in a four-year-old male without molecular diagnosis: Treated but unsolved

Year: 2023

Type: article

Abstract: Even in the absence of a molecular diagnosis, thorough phenotyping, in pursuit of a diagnosis, can provide life-saving clinical information. Clinical evaluation and deep phenotyping is an essential part of the NIH Undiagnosed Diseases Program’s (UDP) search for a diagnosis. The majority of pediatric participants have bundled clinical and research procedures performed under anesthesia as part of their evaluation. While pediatric anesthesia presents risk, some are concerned that anesthesia in undiagnosed patients with multisystemic disease represents an increased risk.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2023.100281

Authors: Yoliann Mojica Algarin, Ellen MacNamara, Precilla D'Souza, Cynthia Tifft

Institutions: National Institutes of Health, National Human Genome Research Institute

Language: English

Topic: Craniofacial Disorders and Treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200