With An Isolated Ear Tag, Does the Baby Need to Have a Renal Ultrasound?

Discussion In 1946, Dr. Edith Potter described renal agenesis along with flattened ears (i.e. Potter’s Syndrome). Isolated preauricular tags (IPT) have an incidence of ~5-10/1000 live births. These are the most common minor external ear abnormalities and are often noted incidentally on physical examination. Renal malformations have an incidence of ~1-3/100 live births. They can be seen together in a variety of genetic diseases including: BOR syndrome – brachio-oto-renal abnormalities CHARGE association Diabetic embryopathy Epstein Syndrome Miller syndrome Muckle-Wells syndrome Nager syndrome Oculoauriculovertebral syndrome Townes-Brocks syndrome Ear and renal tissue arise embryologically at similar but different times and therefore some of these associations are best described by gene expression and not specific insults during the embrologic time period. Learning Point Patients with multiple congenital anomalies or syndromic external ear anomalies should be investigated for potential renal abnormalities. This is particularly true in the setting of a family history of potential genetic syndrome or known renal or hearing disease. While there have been some studies that show an increased association with ear and renal abnormalities, there have been many studies which show that patients with isolated IPTs and preauricular pits having the same risk of significant renal abnormalities as the general population and therefore IPT and pit existence alone does not warrant...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news