Neonatal asymmetric crying facies, described 75 years ago, is a clinical phenotype resembling unilateral partial peripheral facial nerve paralysis, with an incidence of approximately 1 per 160 live births. The cause is either facial nerve compression or faulty facial muscle and/or nerve development. Spontaneous resolution is expected with the former, but not necessarily with the latter etiology. Approximately 10% of the developmental cases have associated major malformations. Mandibular asymmetry and maxillary-mandibular asynclitism (non-parallelism of the gums) are frequently overlooked visual clues to nerve compression. Ultrasound imaging of facial muscles and electrodiagnostic testing may be useful for differential diagnosis and management.
An isochromosome for the long arm of chromosome number 18 ‐ 46, XY, i(18q) ‐ was found in an infant who had features of both trisomy 18 and 18p– syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker‐bottom feet. Those of 18p– syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, webbed neck, low posterior hairline, and widely‐spaced nipples. The infant died of heart failure at 3.5 months of age. Parental karyotypes were normal.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.