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The Pneumosinus Dilatans (PSD) Frontalis is an uncommon condition characterized by abnormal enlargement of the aerated frontal sinus with normal thickness sinus walls. The major complication is aesthetics; however, some cases present with sinus obstructive symptoms. A 32-year-old male presented with complaints of an asymmetrical protrusion on his forehead, as well as recurrent headaches. No signs of sinusitis were detected by periodic examination. Computed tomography demonstrated the presence of large frontal PSD. Due to aesthetic concerns, the patient was selected for forehead aesthetic surgery. The operation was performed through a bi-coronal incision to expose the supraorbital areas. The anterior wall of the right frontal sinus was removed, divided into 2 sections, and fixed into the proper location, and then the sinus outflow was widened. An asymmetric brow lift was then performed to correct the asymmetric brow position. Good results were attained, the patient's headache was resolved, and he was pleased with his appearance. Although the most prevalent complaint of patients with PSD is aesthetic, some patients exhibit concomitant symptoms, including headaches and sinus obstruction. The constriction and partial obstruction of the sinus ostium may cause sinus cavity hypertrophy. Therefore, re-establishing sufficient drainage for the sinus by opening the sinus ostium is recommended during the reconstruction of the forehead's natural architecture to reduce headaches and recurrence of sinus hypertrophy. A combination of a bi-coronal approach regarding aesthetic surgery and sinus outflow widening achieves a desirable outcome that gives a good short-term follow-up result. [ABSTRACT FROM AUTHOR]

Inositol 1,4,5-triphosphate receptor type 1 ( ITPR1 ) is an endoplasmic reticulum-bound intracellular inositol triphosphate receptor involved in the regulation of intracellular calcium. Pathogenic variants in ITPR1 are associated with spinocerebellar ataxia (SCA) types 15/16 and 29 and have recently been implicated in a facial microsomia syndrome. In this report, we present a family with three affected individuals found to have a heterozygous missense c.800C > T (predicted p.Thr267Met) who present clinically with a SCA29-like syndrome. All three individuals presented with varying degrees of ataxia, developmental delay, and apparent intellectual disability, as well as craniofacial involvement-an uncommon finding in patients with SCA29. The variant was identified using clinical exome sequencing and validated with Sanger sequencing. It is presumed to be inherited via parental germline mosaicism. We present our findings to provide additional evidence for germline mosaic inheritance of SCA29, as well as to expand the clinical phenotype of the syndrome., (© 2023 Kleyner et al.; Published by Cold Spring Harbor Laboratory Press.)