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Otocephaly.
Kwei-Shuai Hwang1, Dah-Ching Ding, Yin-Kwan Chang
1Department of Obstetrics and Gynecology, Tri-service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC.
Journal of the Chinese Medical Association : JCMA
|July 17, 2007
Summary
Otocephaly, a rare lethal syndrome, presents severe facial abnormalities. Early ultrasound detection is crucial for identifying this condition during pregnancy, aiding in prenatal diagnosis.
Area of Science:
- Medical Genetics
- Developmental Biology
- Fetal Medicine
Background:
- Otocephaly is a rare, lethal congenital disorder characterized by severe craniofacial malformations.
- It is considered the most severe manifestation of first arch (branchial arch 1) anomalies.
- Syndromic features include microstomia, aglossia, agnathia, and synotia.
Observation:
- A male infant was born to a 19-year-old primigravida mother.
- Prenatal ultrasound at 29 weeks gestation revealed polyhydramnios, low-set ears, and a proboscis.
- Amniocentesis confirmed a normal male karyotype (46, XY).
Findings:
- The infant presented with a midline proboscis and complete absence of the mandible.
- Ears were simple, soft, extremely low-set, and located near the midline of the neck.
- The infant experienced premature birth at 32 weeks gestation and died shortly after delivery.
Implications:
- Prenatal diagnosis of otocephaly relies heavily on meticulous ultrasound examination.
- Polyhydramnios in conjunction with specific sonographic findings should prompt consideration of otocephaly.
- This case underscores the importance of advanced imaging in identifying severe congenital anomalies early in gestation.
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