Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.

We report a 20-year-old, female, adopted Indian patient with over 662 Mb regions of homozy-gosity who presented with intellectual disability, ataxia, schizophrenia, retinal dystrophy, moder-ate-to-severe progressive sensorineural hearing loss (SNHL), congenital hypothyroidism, cleft mi-tral valve with mild mitral valve regurgitation, and dysmorphic features. Exome analysis first on a clinical basis and subsequently on research reanalysis uncovered pathogenic variants in three nu-clear genes following two modes of inheritance that were causal to her complex phenotype. These included (1) compound heterozygous variants in BBS6 potentially causative for Bardet-Biedl syn-drome 6; (2) a homozygous, known pathogenic variant in the stereocilin (STRC) gene associated with nonsyndromic deafness; and (3) a homozygous variant in dual oxidase 2 (DUOX2) gene asso-ciated with congenital hypothyroidism. A variant of uncertain significance was identified in a fourth gene, troponin T2 (TNNT2), associated with cardiomyopathy but not the cleft mitral valve, with mild mitral regurgitation seen in this case. This patient was the product of an apparent first-degree relationship, explaining the multiple independent inherited findings. This case high-lights the need to carefully evaluate multiple independent genetic etiologies for complex pheno-types, particularly in the case of consanguinity, rather than presuming unexplained features are expansions of known gene disorders.

Traumatic arteriovenous fistula of the superficial temporal artery: a histopathologic report.

Traumatic aneurysms, pseudoaneurysms, and arteriovenous (AV) fistulas of the superficial temporal artery (STA) are uncommon, accounting for only 0.5% to 2.0% of all aneurysms subjected to surgery. In the literature that relates to the STA, the general term "aneurysm following traumatic injury" often includes a wide array of pathologic entities, including proper aneurysms, pseudoaneurysms, and AV fistulas. In 75% of cases, such aneurysms are due to blunt trauma. Within this group, STA AV fistulas constitute an exceedingly rare subset. The case presents the occurrence of a traumatic AV fistula of the STA following blunt trauma (karate kick) and provides the first description of the histologic appearance of this lesion.