PubMed · 14784746
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F McGUCKIN. 1950. Attic suppuration.. https://doi.org/10.1017/s0022215100012640
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Ablepharon-macrostomia syndrome (AMS) is a rare condition reported to date in 13 patients worldwide. AMS is characterized by absent or short eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. Additional features include alopecia or sparse hair, hypoplastic malar region, redundant skin, rudimentary nipples, abnormal genitalia. While the AMS phenotype is well delineated in infants and children, clinical manifestations are rather poorly characterized in adulthood. Here, we report on an Italian woman who received a diagnosis of AMS at the age of 46 years after several surgical treatments. A clinical comparison between our patient and previously reported AMS cases aids in delineating the adult phenotype of AMS and further broadens the clinical spectrum of this condition.
OBJECTIVES: With the miniaturization of electronic devices, the demand and usage of button batteries has risen. As a result, button batteries are more readily available for young children to handle and potentially mishandle. They are frequently inadvertently placed by children in their ears or noses. Occasionally they are swallowed and lodged along the upper aerodigestive tract. METHODS: We outline the pathophysiology of button battery-induced trauma and present key radiological features of button batteries that are important in preventing delayed diagnosis after pediatric ingestion. RESULTS: Button batteries of all sizes have a distinctive double contour on radiographs. CONCLUSIONS: Button battery ingestion requires prompt diagnosis and removal. A high index of suspicion along with radiographs help assist with the diagnosis. Potential tragic complications can be averted with expeditious removal.
The association between ear and kidney anomalies is not usually due to an insult to the embryo. In recent years, many essential development control genes that coordinate the assembly and function of kidney and ear have been discovered through the generation of animal mutants and have increased our understanding of the mechanisms of human oto-renal diseases. Here, we describe ear and kidney clinical syndromes and their molecular expression.