A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surger...

We describe a patient with multiple congenital anomalies including deafness, lacrimal duct stenosis, strabismus, bilateral cervical sinuses, congenital cardiac defects, hypoplasia of the corpus callosum, and hypoplasia of the cerebellar vermis. Mutation analysis of EYA1, SIX1, and SIX5, genes that underlie otofaciocervical and/or branchio-oto-renal syndrome, was negative. Pathologic diagnosis o...

The Wildervanck (or cervico-oculo-acoustic) syndrome consists of the characteristic triad of Klippel-Feil anomaly, abducens nerve palsy, and congenital deafness. It is a rare "disorder of polygenic heredity with sex limitation predominant to the female" (female-male ratio is 10: 1) ( 1 ). Hearing loss is most commonly neurosensory due to developmental inner ear anomalies. Only a single case of ...

On November 28, 2016, the Texas Department of State Health Services (Texas DSHS) reported its first confirmed case of local mosquitoborne Zika virus transmission in the city of Brownsville, located in south Texas along the U.S.-Mexico border. Zika virus infection during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformation...

RECENTLY, WE POINTED OUT THAT A SMALL number of individuals fail to acquire basic musical abilities, and that these deficiencies might have neuronal and genetic underpinnings. Such a musical disorder is now termed “congenital amusia,” an umbrella term for lifelong musical disabilities that cannot be attributed to mental retardation, deafness, or lack of exposure. Congenital amusia is a conditio...

BACKGROUND Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atre...