In this case, comfort measures were instituted and the newborn expired after 39 minutes. The family consented to an autopsy and appropriate grief counseling was offered.
Newborn features. The skeletal survey of the infant revealed unremarkable osseous structures below the neck; however, the skull displayed severe hypoplasia of the facial bones with prominent nose, micrognathia, and absence of the zygomaxillary structures. Additionally, absence of the pinnae and underdevelopment of the visualized aspects of the skull base were noted.
Autopsy findings. An autopsy revealed fusion and ventromedial malposition of the ears (synotia, melotia) and absence of the mandible (agnathia). A medial proboscis and malpositioned downward-slanting eyes were also noted. The karyotype was 46,XY and otherwise unremarkable. On the basis of the pathologic examination, it was determined that the most likely diagnosis was severe Treacher-Collins syndrome.
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Cite this: Unanticipated Congenital Malformation - Medscape - Mar 09, 2011.