2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Pancraniosynostosis and Macrocephaly in a Four-Year-Old Male Without Molecular Diagnosis: Treated but Unsolved

Pancraniosynostosis and Macrocephaly in a Four-Year-Old Male Without Molecular Diagnosis: Treated but Unsolved

Pdf Summary

The case involves a 4-year-old Hispanic male who presented with developmental delays, short stature, behavioral outbursts, macrocephaly, dysmorphic facies, and dysplastic pulmonary valve. He had complications at birth, including respiratory and cardiological issues, hypoglycemia, sepsis, jaundice, and lung disease. Throughout his early years, he exhibited behavioral problems, chronic otitis media, and mild pulmonary valve stenosis. Brain MRI revealed foramen magnum stenosis and pancraniosynostosis, leading to increased intracranial pressure. He underwent cranial vault remodeling surgery, which resolved many of his behavioral issues. Polysomnogram study showed mild sleep apnea and restless leg syndrome, while EEG studies demonstrated mild to moderate background slowing. Neurodevelopmental evaluation revealed delays in motor skills, language, and visual reception. He had various physical abnormalities, including dysmorphic features, pectus deformity, and dermal melanocytosis spots. Genetic testing revealed an interstitial deletion on chromosome 7 and several variants of uncertain significance. The case highlights the importance of thorough phenotyping in the absence of a diagnosis and the potential benefits of procedural anesthesia in undiagnosed patients. It also emphasizes the need for extensive clinical evaluation and the ability to provide effective care for symptomatic patients, even without a molecular diagnosis.

Asset Subtitle

Presenting Author - Yoliann Mojica Algarin, BS; Co-Author - Ellen Macnamara, MSGC; Co-Author - Precilla D'Souza, PNP, DNP; Co-Author - Cynthia J. Tifft, MD, PhD;

Meta Tag

Brain/Nervous System

Dysmorphology

Genetic Testing

Genotype-Phenotype Correlations

Malformation

Phenotype

Co-Author Ellen Macnamara, MSGC

Co-Author Precilla D'Souza, PNP, DNP

Co-Author Cynthia J. Tifft, MD, PhD

Presenting Author Yoliann Mojica Algarin, BS

Keywords

developmental delays

dysmorphic facies

dysplastic pulmonary valve

respiratory issues

cranial vault remodeling surgery

sleep apnea

genetic testing

chromosome 7

undiagnosed patients

symptomatic patients