Gray Platelet Syndrome in a Neonate With VACTERL Association: A Novel Homozygous Pathogenic Variant c.5257C>T in the NBEAL2 Gene.

ABSTRACT: Gray platelet syndrome is a rare hereditary autosomal recessive condition distinguished by a mild to moderate propensity toward bleeding, moderate reduction in platelet count, and a significant decrease or complete absence of platelet alpha granules. VACTERL association is a condition of specific birth defects affecting multiple organ systems, with an unknown etiology. The acronym stands for vertebral anomalies (V), anal anomalies (A), cardiac anomalies (C), tracheoesophageal fistula (TE), renal anomalies or radial bone anomalies (R), and limb defects (L). To diagnose the VACTERL association, at least three of the aforementioned abnormalities should be present. This case report concerns a neonate born with a left absent thumb, a hypoplastic right thumb, an imperforate anus, and an atrial s

SUBMITTER: Alasmari BG 

PROVIDER: S-EPMC10699155 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature