ULTRASOUND OF ANTLEY-BIXLER SYNDROME

1. Craniofacial.
• Brachycephaly.
• Frontal bossing.
• Proptosis.
• Midface hypoplasia.
• Dysplastic ears.
• Depressed nasal bridge.
• Choanal atresia/stenosis.
• Large anterior fontanelle.
• Craniosynostosis (coronal suture).
2. Skeletal.
• Radiohumeral synostosis(100%)
• Femoral bowing.
• Femoral fractures.
• Multiple joint contractures (92.5%).
3. Extremities.
• Camptodactyly.
• Long fingers.
• Rocker bottom feet.
4. Urogenital (40%).
• Hypoplastic labia majora.
• Fused labia minora.
• Large clitoris.
• Renal duplication.
• Urethral obstruction.
• Hydronephrosis.
• Undescended testis.

REFERENCES

1. Jacobson RL, Dignan P St John, Miodovnik M et.al. Antley-Bixler Syndrome. J Ultrasound Med 1992;11:161-164.