4.4 Congenital Malformations of the Ear.4.3 Congenital anomalies of the nervous system: Microcephaly.4.2 Congenital Malformations of the Nervous System: Neural tube defects.4.1 Lists of selected external and internal congenital anomalies to consider for monitoring.Diagnosing and Coding Congenital Anomalies plus icon 3.9 Potential inclusion/exclusion criteria.3.5 Description formats for congenital anomalies.1.2 Purpose of congenital anomalies surveillance.Surveillance of Congenital Anomalies plus icon Report whether autopsy (pathology) findings are available and if so, report the results. Specialty consultations and surgical reports.Cervical vertebral anomalies suggests OAVS (check for radiographs).Downslanting palpebral fissures, small jaw, eyelid coloboma – suggests selected syndromes.Check for preauricular tag or pits (describe code Q17.0).Exclude microtia type I – small ear with normal components or with minor anomalies of individual structures is a minor anomaly, not to be included in public health surveillance.Take and report photographs: Show clearly the side and front can be crucial for review.ĭescribe evaluations to find or rule out related and associated anomalies: Presence/absence of ear canal presence of ear tags.Severity (absent structures, shape, compare to second–third–fourth degrees).Review examinations, procedures and imaging.Ĭhecklist for high-quality reporting Checklist for high-quality reporting Microtia/Anotia – Documentation Checklist.Such conditions include the oculo-auriculo-vertebral spectrum (OAVS) and Goldenhar “syndrome”, as well as genetic syndromes, such as Treacher-Collins syndrome and trisomy 18, or teratogenic, such as retinoic acid embryopathy. Look for microtia/anotia occurring in conjunction with other anomalies and syndromes, especially those involving the mandible and face.Because microtia (second degree and above) is associated with hearing loss, hearing should be evaluated as soon as possible, ideally in the newborn period, so that appropriate management can be put in place. However, abnormalities of the middle and inner ear, commonly associated with the more severe degrees of microtia, should be sought, and typically require advanced imaging (CT or MRI scan), surgery, or autopsy. Microtia-anotia can be easily recognized and classified based on the newborn physical examination. When such confirmation is not possible – due, for example, to termination of pregnancy or unexamined fetal death – the programme should have criteria in place to determine whether to accept or not accept a case based only on prenatal data. Even if prenatal ultrasonography suggests microtia/anotia, the diagnosis should always be confirmed postnatally. Delineating the position and shape of the ear might require threedimensional ultrasound. Microtia/anotia is easy to miss prenatally. Sidedness – unilateral (usually unilateral more often on right side) versus bilateral severity can vary between the left and right sides.Severity – I-IV degree, based on the extent of external ear involvement and atresia of the external canal.Key findings in microtia/anotia (see Fig.
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