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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Gabriele-de Vries syndrome: exploring the phenotyp ...
Gabriele-de Vries syndrome: exploring the phenotype of a recently described genetic disorder
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The document describes a case of Gabriele-de Vries syndrome (GdVS) in a patient who presented with developmental delay/intellectual disability and various dysmorphic features including a broad forehead, full nasal tip, malar hypoplasia, and external ear anomalies. The patient also had additional rare features including craniosynostosis, bilateral sensorineural hearing loss, and complex cardiac malformation. Neurological findings such as hypotonia, behavioral issues, and movement disorders were also observed. No specific pattern of brain imaging abnormalities was found. Cardiac abnormalities were reported in 5 out of 28 patients with GdVS, including Ebstein anomaly, small aorto-pulmonary collateral, and mitral and tricuspid regurgitation. It is uncertain whether the complex cardiac finding in this patient represents an expansion of the phenotypic spectrum of GdVS. This case contributes to the understanding of the phenotypic variability of GdVS and highlights the rare occurrence of craniosynostosis and bilateral sensorineural hearing loss in this syndrome. The references provided in the document support the findings and research related to Gabriele-de Vries syndrome.
Asset Subtitle
Presenting Author - Mariane Tomiyoshi Asato, MD; Co-Author - April Lehman, MD; Co-Author - Andrea Wilhelm, GC; Co-Author - Kara TO. Pappas, M.D.;
Meta Tag
Delineation of Diseases
Dysmorphology
Genome sequencing
Phenotype
Co-Author
April Lehman, MD
Co-Author
Andrea Wilhelm, GC
Co-Author
Kara TO. Pappas, M.D.
Presenting Author
Mariane Tomiyoshi Asato, MD
Keywords
Gabriele-de Vries syndrome
GdVS
developmental delay
intellectual disability
dysmorphic features
craniosynostosis
sensorineural hearing loss
cardiac malformation
hypotonia
behavioral issues
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