An anatomical study of human otocephaly.
This study describes the gross anatomic variations observed in a 32-week male fetus diagnosed as having otocephaly. Special attention was given to the muscular, peripheral nervous, and vascular systems of the entire body. External features included approximation of the ears on the front of the neck, underdevelopment of the lower jaw, and a small oral cavity. The mandible, maxillae, and zygomatic bones were smaller than normal and appeared shifted in a ventrocaudal direction. The middle ear ossicles were fused and abnormally positioned. The tongue was positioned abnormally and malformed. The muscles of mastication were fused in the midline and formed the floor of the oral cavity. The variations were similar to the spectrum of abnormalities reported in two cases in the literature. Because of this finding, it is possible that the causative events leading to these deviations were similar in the three cases. Possible mechanisms are considered which could lead to the observed malformations seen in these cases. There were also several muscle and nerve anomalies outside of the head region.
D000015:Abnormalities, Multiple / Q000473:pathology*; D005121:Extremities; D006257:Head / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000473:pathology; D009333:Neck / Q000002:abnormalities* / Q000473:pathology; D010525:Peripheral Nerves / Q000473:pathology; D012782:Shoulder; D013737:Testis / Q000473:pathology