2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-A Case of Multiple Hemangiomas and Arteriovenous Malformations in a Patient with Known Greig Cephalopolysyndactyly Syndrome.

A Case of Multiple Hemangiomas and Arteriovenous Malformations in a Patient with Known Greig Cephalopolysyndactyly Syndrome.

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Pdf Summary

This case study discusses a patient with Greig cephalopolysyndactyly syndrome (GCPS), a rare genetic disorder caused by pathogenic variants in the GLI3 gene. The patient presented with polydactyly, dysmorphic features, and macrocephaly, which are common characteristics of GCPS. The GLI3 gene is known to cause several disorders, including GCPS, Pallister-Hall syndrome, and various types of polydactyly. Phenotypic differences can occur depending on the specific location of the gene variant.<br /><br />Interestingly, the patient also exhibited multiple hemangiomas and arteriovenous malformations (AVMs), which are not typically associated with the GLI3 spectrum of disorders. These findings suggest a possible overlap between GCPS and other disorders within the GLI3 spectrum. The patient's unique de novo variant in the GLI3 gene was classified as pathogenic.<br /><br />Multiple tests, including lung biopsy, bone marrow biopsy, PET scans, and brain MRI, were performed to evaluate the patient's condition. The lung biopsy revealed a benign vascular lesion with papillary endothelial hyperplasia, consistent with the clinical suspicion of multiple AVMs. Additional genetic testing detected a copy number variant of uncertain significance in the patient's genome.<br /><br />The patient's overall phenotype combined features of GCPS and vascular abnormalities, emphasizing the need for further research on the genetic basis of these disorders. Future studies may provide insights into the pathophysiology and management of patients with similar presentations.

Asset Subtitle

Presenting Author - Kathryn Leal, MS, CGC; Co-Author - Paul R. Hillman, MD/PhD; Co-Author - Parsa Hodjat, MD;

Meta Tag

Dysmorphology

Exome sequencing

Genetic Testing

Malformation

Co-Author Paul R. Hillman, MD/PhD

Co-Author Parsa Hodjat, MD

Presenting Author Kathryn Leal, MS, CGC

Keywords

Greig cephalopolysyndactyly syndrome

GCPS

GLI3 gene

polydactyly

dysmorphic features

macrocephaly

Pallister-Hall syndrome

hemangiomas

arteriovenous malformations

genetic testing