Coffin–Siris syndrome (CSS; MIM 135900) is a multisystem congenital anomaly syndrome caused by mutations in the genes in the Brg‐1 associated factors (BAF) complex. Classically, individuals with CSS have been described with hypo‐ or aplasia of the fifth digit nails or phalanges (hence the term “fifth digit syndrome”). Other physical features seen include growth restriction, coarse facial features, hypertrichosis or hirsutism, sparse scalp hair, dental anomalies, and other organ‐system abnormalities. Varying degrees of developmental and intellectual delay are universal. To date, approximately 200 individuals have been described in the literature. With the advent of large‐scale genetic testing such as whole‐exome sequencing is becoming more available, more individuals are being found to have mutations in this pathway, and the phenotypic spectrum appears to be broadening. We report here a large cohort of 81 individuals with the diagnosis of CSS from the first parent‐reported CSS/BAF complex registry in an effort to describe this variation among individuals, the natural history of the syndrome, and draw some gene–phenotype correlations. We propose that changes in the BAF complex may represent a spectrum of disorders, including both ARID1B‐related nonsyndromic intellectual disability (ARID1B‐ID) and CSS with classic physical features. In addition, we offer surveillance and management recommendations based on the medical issues encountered in this cohort to help guide physicians and patients' families.

Objectives: Although many techniques have been proposed for the repair of tympanic membrane perforations, few address the unique challenges presented by anterior marginal perforations. In these circumstances, traditional underlay and overlay techniques are often complicated by issues including blunting of the anterior tympanomeatal angle, graft lateralization, delayed healing, and reduced graft take rates. The “window shade” tympanoplasty technique described in this paper incorporates several aspects of the underlay and overlay techniques to address these issues. Study Design and Setting: A retrospective chart review was conducted at an academic medical center, of all patients who underwent window shade tympanoplasty from 1994 to 2016 by a single surgeon. Patients: A total of 412 patients aged 6 to 76 years old were included in the study. Patients who had undergone concomitant ossicular chain reconstruction were excluded from the hearing outcome portion of the analysis. Main Outcome Measures: Any patients observed to have residual postoperative perforations within the first 6 months after surgery were considered to have graft failure. Complications such as otorrhea, serous otitis media, epithelial pearls, and post-auricular infection were tabulated. Air-bone gap closure was also assessed. Results: Postoperative outcomes of 412 patients were assessed including graft take rate, complication rates, and air-bone gap closure. The graft take success rate was 94.2%. Overall complication rate was 4.6%. 82.6% of patients achieved air-bone gap closure within 10 dB. Conclusions: The results of this study further reinforce the success of the window shade technique in repairing anterior marginal tympanic membrane perforations.