Prenatal diagnosis of otocephaly

Abstract

A 23 year old G3P2 white female was referred following a routine ultrasound at 22 weeks gestation revealing facial anomalies. The patient's history includes a three-year-old daughter with autism and a congenital heart defect and a one-year-old son born with anophthalmia of the right eye and microphthalmia of the left eye, resulting in bilateral blindness. Both children were born to different fathers. A detailed ultrasound performed at 22 weeks gestation, confirmed absence of mandible, a mid-facial protuberance, a multicystic, dysplastic right kidney and polyhydrammos. These results were consistent with otocephaly. The patient's history raised concern for a pattern of inheritable defects in this family; therefore, an amniocentesis was performed at 22 weeks gestation. Chromosome results were 46,XY. Following the ultrasound findings, a thorough discussion of otocephaly with extensive genetic counseling ensued, and the patient requested an early induction of labor. Due to the lethality of otocephaly, the pediatric ethics committee at Methodist hospital met and granted permission for an early induction of labor at 23 weeks gestation. Patient delivered a 594 gram fetus. Autopsy examination confirmed the diagnosis of otocephaly. No definite mandible was identified by dissection or fetal x-ray. A protuberance on the lower mid-face was present with a small midline skin dimple. The nose was situated on the upper aspect of the protuberance with patent external nares, but no patent choanac were found. No patent mouth opening, oral cavity or normal tongue was identified. Extremely low-set ears nearly met in the anterior midline of the neck, below the protuberance. The eyes were low-set with down-slanting palpebral fissures. The right lid was fused, and the left was partially open. No cardiovascular or other significanl gross abnormalities were present. Otocephaly is a rare developmental field defect of the face and neck with an approximate prevalence of 1/70,000. This condition is lethal due to insufficient airway function caused by agnathia. The etiology of oloccphaly is heterogenous and is possibly caused by migration defects of the neural crest or by defects in the interaction of these cells with the mesoderm. This condition can be associated with cardiac, pulmonary, esophageal and/or renal anomalies. Due to this patient's history, an extensive ycnchc evaluation is recommended for this family.