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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

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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.

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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.