- A full-term newborn was delivered after an uneventful pregnancy to a gravida 2, para 2 woman by normal spontaneous vaginal delivery. His birth weight is 3,150 g. Findings on physical examination are unremarkable except for bilateral ear pits and a small branchial sinus on the left neck with no drainage noted.
Of the following, prior to discharge, you are MOST likely to order a(n)
A. complete blood cell count
B. complete metabolic profile
C. echocardiogram
D. head ultrasonography
E. renal ultrasonography - The infant described in this vignette has clinical features suggestive of branchio-oto-renal (BOR) syndrome. This autosomal dominant disorder caused by mutations in EYA1 is associated with preauricular pits (70%-80%), branchial cysts or fistulas (30%-60%), and structural renal anomalies (12%-20%). Therefore, renal ultrasonography is recommended in light of the other 2 clinical findings. In addition to these features, individuals with BOR syndrome may have other external ear malformations, and at least 75% have some degree of hearing loss.
- Other syndromes typically associated with external ear malformations include CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital and Renal anomalies, Ear abnormalities), Townes-Brocks syndrome, oculo-auriculo-vertebral spectrum (Goldenhar syndrome), Treacher-Collins syndrome, Nager syndrome, Miller syndrome, and diabetic embryopathy (Item C50, page C-40). A large survey of patients with external ear anomalies, including preauricular pits, demonstrated that almost 30% had concomitant renal anomalies and 92% represented a multiple congenital anomaly syndrome. For individuals with apparent isolated ear anomalies, approximately 11% will be found to have a hidden renal malformation. Therefore, renal ultrasonography must be performed in infants with ear anomalies (including tags, pits, lop ear, cupped ear, microtia or anotia) in addition to any of the following findings: dysmorphic facies, facial asymmetry, ocular or eyelid colobomas, choanal atresia, micrognathia (small jaw), branchial cysts or sinuses, cardiac murmur, limb anomalies, or an imperforate or anteriorly placed anus. Renal ultrasonography should also be performed on an infant with external ear malformations if there is a family history of hearing loss and ear or renal malformations, or if there is a history of maternal diabetes during gestation.
- A complete blood cell count or head ultrasonography would not be indicated under these circumstances. A complete metabolic profile might uncover renal dysfunction, but most renal malformations identified in patients with BOR syndrome would not present with renal failure. An echocardiogram would only be indicated if the infant had a cardiac murmur, cyanosis, low oxygen saturation, or other signs of a cardiac defect
Dr. Jayaprakash
Superintendent, ICH.
Institute of Child Health.
Gov. Medical College Kottayam.
Kerala, India.