Journal of the Chinese Medical Association
Volume 70, Issue 7 , Pages 298-301, July 2007

Otocephaly

  • Kwei-Shuai Hwang

      Affiliations

    • Department of Obstetrics and Gynecology, Tri-service General Hospital, National Defense Medical Center, Taipei, Hualien, Taiwan, R.O.C.
    • ,
  • Dah-Ching Ding

      Affiliations

    • Graduate Institute of Medical Science, School of Medicine, Buddhist Tzu Chi University, Hualien, Taiwan, R.O.C.
    • Department of Obstetrics and Gynecology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan, R.O.C.
    • Corresponding Author InformationCorrespondence to: Dr Dah-Ching Ding, Department of Obstetrics and Gynecology, Buddhist Tzu Chi Medical Center, 707, Section 3, Chung Yang Road, Hualien 970, Taiwan, R.O.C.
    • ,
  • Yin-Kwan Chang

      Affiliations

    • Department of Obstetrics and Gynecology, Tri-service General Hospital, National Defense Medical Center, Taipei, Hualien, Taiwan, R.O.C.
    • ,
  • Wei-Hwa Chen

      Affiliations

    • Department of Obstetrics and Gynecology, Tri-service General Hospital, National Defense Medical Center, Taipei, Hualien, Taiwan, R.O.C.
    • ,
  • Tang-Yuan Chu

      Affiliations

    • Department of Obstetrics and Gynecology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan, R.O.C.

Received 29 June 2006; accepted 16 April 2007.

Article Outline

Otocephaly is a rare lethal syndrome of microstomia, aglossia, agnathia, and synotia. This male infant was born to a 19-year-old, gravida 1, para 0, woman who received routine prenatal check-up. Polyhydramnios, low-lying ears, and proboscis were noted by sonography at 29 weeks of gestation. Amniocentesis showed a normal karyotype of 46, XY. Premature rupture of membranes and preterm labor were noted at 32 weeks of gestation. A male infant was delivered preterm and died shortly after birth. The infant showed midline proboscis and absence of mandible. The simple, soft ears were extremely low-set and were near the midline of the neck. Otocephaly is regarded as the most severe form of first arch anomalies. Prenatal diagnosis should be dependent on ultrasound analysis. In the face of polyhydramnios, otocephaly is one of the possible fetal anomalies.

Key Words:  agnathia , fetal anomaly , otocephaly

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PII: S1726-4901(07)70009-6

doi:10.1016/S1726-4901(07)70009-6

Journal of the Chinese Medical Association
Volume 70, Issue 7 , Pages 298-301, July 2007

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