The diagnosis of EPVFMD is augmented with the addition of provocation testing. Findings of PVFMD can be identified at rest when asymptomatic. Laryngeal control therapy is an effective treatment for EPVFMD.

Alström syndrome is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, and cardiomyopathy. Here we comprehensively characterize the auditory and otologic manifestations in a prospective case series of 38 individuals, aged 1.7-37.9 years, with genetically confirmed Alström syndrome. Hearing loss was preceded by retinal dystrophy in all cases, and had an average age of detection of 7.45 years (range 1.5-15). Audiometric assessments showed mean pure tone averages (0.5, 1, 2, 4 kHz) of 48.6 and 47.5 dB HL in the right and left ears, respectively. Hearing was within normal limits for only 8/74 ears (11%). For the 66 ears with hearing loss, the degree was mild (12%), moderate (54%), or severe (8%). Type of hearing loss was predominantly sensorineural (77%), while three ears had mixed loss, no ears had conductive loss, and type of hearing loss was indeterminate for the remaining 12 ears. Serial audiograms available for 33 patients showed hearing loss progression of approximately 10-15 dB/decade. Our data show that hearing loss associated with Alström syndrome begins in childhood and is a predominantly symmetric, sensory hearing loss that may progress to a severe degree. Absent otoacoustic emissions, intact speech discrimination, and disproportionately normal auditory brainstem responses suggest an outer hair cell site of lesion. These findings indicate that individuals with Alström syndrome would benefit from sound amplification and if necessary, cochlear implantation.

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Pentalogy of Cantrell is a rare syndrome consisting of midline abnormalities involving the heart, sternum, abdominal wall, and the anterior and pericardial diaphragm. This combination of defects places patients at particular perioperative risk and requires individualized management during anesthetic care. The following report documents the management of a patient with pentalogy of Cantrell, whose condition was further complicated by severe midline craniofacial abnormalities, including large anterior encephalocele, deficient mandible, tethered tongue, and cleft palate. The case offers insight into the complexity of care in this unique patient population.

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