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Otocephaly: a case report

Anshu Sharma, Amrutha K. V., Joseph Abraham, Mahesh Sharma.

A case of otocephaly was reported in 26±4 week’s female fetus during routine fetal autopsy at GMCH, Chandigarh, India. Mother was 25 years old, second gravid. The first child is one year old normal male baby. Present pregnancy resulted in spontaneous abortion. Antenatal history, past history, family history and medical history of mother was not suggestive of any ethiological factor responsible for the defect. The external examination showed 2 vessels in umbilical cord. There was anteroposterior lengthening of skull, mouth was in the form of a proboscis with a small opening in the centre, the right ear was absent. The left pinna was low placed and had small tags. On internal examination oral cavity was found small with hypoplastic mandible, tongue was absent (aglossia), thoracic cavity was small, left lung was absent, right lung had only single lobe, heart dilated with normal position of major vessels, In abdominal cavity gut was opening in a dilated cloaca like chamber. X-ray examination revealed small hypoplastic mandible and maxilla. Otocephaly is a rare lethal syndrome of microstomia, agnatia and ear anomalies. Other anomalies associated are holoprosenxcephaly, skeletal, genitourinary, cardiovascular system, endocrine gland hypoplasia etc. The differential diagnosis includes Treacher Collins syndrome, Goldenhar syndrome and Mobius syndrome. The etiology, incidence, causative factors of this case will be discussed in light of available literature.

Key words: Otocephaly, Agnathia, Aglossia

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American Journal of Preventive Medicine and Public Health


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