| Autor: |
Alexander, Nicole L., Chandy, Binoy, Barton, Geran, Liu, Yi‐Chun Carol |
| Zdroj: |
American Journal of Medical Genetics. Part A; Oct2020, Vol. 182 Issue 10, p2409-2416, 8p |
| Abstrakt: |
Agnathia is a rare congenital malformation with unknown etiology characterized by absence of the mandible, microstomia, and tongue aplasia, often found to have other anomalies including holoprosencephaly. The purpose of this paper was to describe the symptoms and imaging of a case of isolated agnathia and to conduct a comprehensive literature review of reported patients with isolated agnathia. Case reports of isolated agnathia are very rare, with most infants as stillborn. We report a child's management of isolated agnathia with microstomia and tongue aplasia. A literature review was performed with focus on diagnosis, airway, and feeding management of isolated agnathia. Polyhydramnios was a common pregnancy complication reported in 25 out of the 39 patients in the case study. Five infants were stillborn, while 23 died within the neonatal period. Of the deceased infants within the neonatal period, 19 died within minutes to hours while four died within days to weeks. There are nine patients with agnathia that survived past infancy. The results of this study suggest that isolated agnathia is a rare malformation which requires a multi‐disciplinary approach for airway and feeding management. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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